Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency
Tài liệu tham khảo
Brunzell, J.D, and S.S. Deeb. 2001. Familial lipoprotein lipase deficiency, apo CII deficiency and hepatic lipase deficiency. In The Metabolic and Molecular Basis of Inherited Disease, 8th edition (CR Sciver, AI Beaudet, WS Sly, and D Vale, eds). New York McGraw-Hill B. Co. Chapter 11: 2789–2816.
Berglund, 2012, Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline, J Clin Endocrinol Metab, 97, 2969, 10.1210/jc.2011-3213
Hegele, 2014, The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management, Lancet Diabetes Endocrinol, 2, 655, 10.1016/S2213-8587(13)70191-8
Mailly, 1997, Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy, Hum Mutat, 10, 465, 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C
Merkel, 2002, Lipoprotein lipase: genetics, lipid uptake, and regulation, J Lipid Res, 43, 1997, 10.1194/jlr.R200015-JLR200
Rahalkar, 2009, Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review, Can J Physiol Pharmacol, 87, 151, 10.1139/Y09-005
Adeyo, 2012, Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins, J Intern Med, 272, 528, 10.1111/joim.12003
Kersten, 2014, Physiological regulation of lipoprotein lipase, Biochim Biophys Acta, 1841, 919, 10.1016/j.bbalip.2014.03.013
Young, 2013, Biochemistry and pathophysiology of intravascular and intracellular lipolysis, Genes Dev, 27, 459, 10.1101/gad.209296.112
Evans, 2011, Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia, Atherosclerosis, 214, 386, 10.1016/j.atherosclerosis.2010.11.026
Johansen, 2010, Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia, Nat Genet, 42, 684, 10.1038/ng.628
Wang, 2007, Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650), Arterioscler Thromb Vasc Biol, 27, 2450, 10.1161/ATVBAHA.107.150680
Wright, 2008, Genetic screening of the LPL gene in hypertriglyceridaemic patients, Atherosclerosis, 199, 187, 10.1016/j.atherosclerosis.2007.10.029
Stroes, 2008, Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients, Arterioscler Thromb Vasc Biol, 28, 2303, 10.1161/ATVBAHA.108.175620
Gaudet, 2010, Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency, Atheroscler Suppl, 11, 55, 10.1016/j.atherosclerosissup.2010.03.004
Carpentier, 2012, Effect of alipogene tiparvovec (AAV1-LPL(S447X)) on postprandial chylomicron metabolism in lipoprotein lipase-deficient patients, J Clin Endocrinol Metab, 97, 1635, 10.1210/jc.2011-3002
Thomsen, 2014, Myocardial infarction and ischemic heart disease in overweight and obesity with and without metabolic syndrome, JAMA Intern Med, 174, 15, 10.1001/jamainternmed.2013.10522
Tejedor, 2005, Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia, Clin Chem, 51, 1137, 10.1373/clinchem.2004.045203
Yang, 1996, Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease, J Lipid Res, 37, 2627, 10.1016/S0022-2275(20)37466-6
Sagoo, 2008, Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis, Am J Epidemiol, 168, 1233, 10.1093/aje/kwn235
Yang, 1995, A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity, Proc Natl Acad Sci U S A, 92, 4462, 10.1073/pnas.92.10.4462
Yu, 2006, A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis, Biochem Biophys Res Commun, 341, 82, 10.1016/j.bbrc.2005.12.165
Nakamura, 1996, A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene, J Atheroscler Thromb, 3, 17, 10.5551/jat1994.3.17
Chimienti, 1992, A G–--C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family, Biochem Biophys Res Commun, 187, 620, 10.1016/0006-291X(92)91240-Q
Hölzl, 2000, Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23, J Lipid Res, 41, 734, 10.1016/S0022-2275(20)32382-8
Rouis, 1996, Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His), J Lipid Res, 37, 651, 10.1016/S0022-2275(20)37606-9
Fisher, 2003, Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers, Atherosclerosis, 166, 243, 10.1016/S0021-9150(02)00337-4
Reina, 1992, Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes, J Lipid Res, 33, 1823, 10.1016/S0022-2275(20)41340-9
Chan, 2006, A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia, Clin Chim Acta, 368, 120, 10.1016/j.cca.2005.12.020
Benlian, 1996, Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency, Am J Hum Genet, 59, 431
Kobayashi, 1994, A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion, Biochem Biophys Res Commun, 205, 506, 10.1006/bbrc.1994.2694
Lee, 2008, Compound heterozygosity of novel missense mutations (Ser45--> Gly, Cys278--> Arg) in the lipoprotein lipase gene in a newborn Korean infant, Clin Chim Acta, 387, 172, 10.1016/j.cca.2007.08.007
Semenkovich, 1990, In vitro expression and site-specific mutagenesis of the cloned human lipoprotein lipase gene. Potential N-linked glycosylation site asparagine 43 is important for both enzyme activity and secretion, J Biol Chem, 265, 5429, 10.1016/S0021-9258(19)39378-0
Gotoda, 1991, Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency, J Clin Invest, 88, 1856, 10.1172/JCI115507
Hata, 1990, Compound heterozygote for lipoprotein lipase deficiency: Ser–--Thr244 and transition in 3' splice site of intron 2 (AG–--AA) in the lipoprotein lipase gene, Am J Hum Genet, 47, 721
Sprecher, 1992, Trp64–--nonsense mutation in the lipoprotein lipase gene, J Lipid Res, 33, 859, 10.1016/S0022-2275(20)41511-1
Bruin, 1994, A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression, J Lipid Res, 35, 438, 10.1016/S0022-2275(20)41188-5
Foubert, 1997, Assessment of French patients with LPL deficiency for French Canadian mutations, J Med Genet, 34, 672, 10.1136/jmg.34.8.672
Benlian, 1996, Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene, N Engl J Med, 335, 848, 10.1056/NEJM199609193351203
Chan, 2002, Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia, Hum Mutat, 20, 232, 10.1002/humu.9054
Yang, 2003, Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes, Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 25, 134
Wilson, 1993, Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes, J Clin Invest, 92, 203, 10.1172/JCI116551
Ishimura-Oka, 1992, A missense mutation (Trp86–--Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia, Am J Hum Genet, 50, 1275
Hide, 1992, Structure and evolution of the lipase superfamily, J Lipid Res, 33, 167, 10.1016/S0022-2275(20)41537-8
Henderson, 1990, Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency, Mol Biol Med, 7, 511
Ikeda, 2000, A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia, Clin Sci (Lond), 99, 569, 10.1042/cs0990569
Emi, 1990, Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene, Am J Hum Genet, 47, 107
Ma, 1993, Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene, J Clin Invest, 91, 1953, 10.1172/JCI116414
Bijvoet, 1994, Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent, Hum Genet, 93, 339, 10.1007/BF00212035
Ameis, 1991, Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene, J Clin Invest, 87, 1165, 10.1172/JCI115114
Bruin, 1993, Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase, J Lipid Res, 34, 2109, 10.1016/S0022-2275(20)35352-9
Ikeda, 2001, Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8, J Lipid Res, 42, 1072, 10.1016/S0022-2275(20)31596-0
Ma, 1992, Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis, J Biol Chem, 267, 1918, 10.1016/S0021-9258(18)46034-6
Faustinella, 1991, Catalytic triad residue mutation (Asp156–--Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447–--Ter) in a Turkish family, J Biol Chem, 266, 14418, 10.1016/S0021-9258(18)98701-6
Bruin, 1992, A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity, Eur J Biochem, 208, 267, 10.1111/j.1432-1033.1992.tb17182.x
Wiebusch, 1996, Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia, Hum Mutat, 8, 381, 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z
Brites, 2003, New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family, Acta Paediatr, 92, 621, 10.1111/j.1651-2227.2003.tb02517.x
Abifadel, 2004, Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method, Clin Genet, 65, 158, 10.1111/j.0009-9163.2004.00205.x
Beg, 1990, Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176–--Thr) leads to abnormal heparin binding and loss of enzymic activity, Proc Natl Acad Sci U S A, 87, 3474, 10.1073/pnas.87.9.3474
Haubenwallner, 1993, A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia), Genomics, 18, 392, 10.1006/geno.1993.1481
Tenkanen, 1994, A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state, J Lipid Res, 35, 220, 10.1016/S0022-2275(20)41210-6
Emi, 1990, Missense mutation (Gly–--Glu188) of human lipoprotein lipase imparting functional deficiency, J Biol Chem, 265, 5910, 10.1016/S0021-9258(19)39449-9
Monsalve, 1990, A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries, J Clin Invest, 86, 728, 10.1172/JCI114769
Zhang, 1997, Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia, Clin Sci (Lond), 93, 335, 10.1042/cs0930335
Henderson, 1991, Amino acid substitution (Ile194–--Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin, J Clin Invest, 87, 2005, 10.1172/JCI115229
Hata, 1992, Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization, J Biol Chem, 267, 20132, 10.1016/S0021-9258(19)88676-3
Maruyama, 2004, Mutations in Japanese subjects with primary hyperlipidemia–results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996–, J Atheroscler Thromb, 11, 131, 10.5551/jat.11.131
Takagi, 1997, 1.P.54 Molecular and environmental bases of primary type IV hyperlipoproteinemia: Heterozygous lipoprotein lipase deficiency as a causal genetic disorder, Atherosclerosis, 134, 27, 10.1016/S0021-9150(97)88233-0
Ma, 1991, A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians, N Engl J Med, 324, 1761, 10.1056/NEJM199106203242502
Yang, 2007, Genetic screening of the lipoprotein lipase gene for mutations in Chinese subjects with or without hypertriglyceridemia, J Genet Genomics, 34, 381, 10.1016/S1673-8527(07)60041-1
Murthy, 1996, Molecular pathobiology of the human lipoprotein lipase gene, Pharmacol Ther, 70, 101, 10.1016/0163-7258(96)00005-8
Takagi, 1992, Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript, J Clin Invest, 89, 581, 10.1172/JCI115624
Henderson, 1993, Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region, J Lipid Res, 34, 1593, 10.1016/S0022-2275(20)36952-2
Takagi, 1994, A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia, J Lipid Res, 35, 2008, 10.1016/S0022-2275(20)39947-8
Hoffmann, 2000, Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis, J Clin Endocrinol Metab, 85, 4795
Shen, 1999, [A gene analysis of familial lipoprotein lipase deficiency in China], Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 16, 233
Ma, 1992, A missense mutation (Asp250–--Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries, Genomics, 13, 649, 10.1016/0888-7543(92)90136-G
Dichek, 1991, Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome, J Biol Chem, 266, 473, 10.1016/S0021-9258(18)52459-5
Appelman, 1994, A de novo mutation in the lipoprotein lipase (LPL) gene causing LPL deficiency, Atherosclerosis, 109, 63, 10.1016/0021-9150(94)93267-0
Jap, 1999, Lipoprotein lipase deficiency, Hum Genet, 104, 289
Bijvoet, 1996, Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency, Neth J Med, 49, 189, 10.1016/0300-2977(96)00043-5
Chan, 2000, Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a chinese patient with hypertriglyceridemia, Eur J Clin Invest, 30, 33, 10.1046/j.1365-2362.2000.00587.x
Ma, 1994, High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform, J Lipid Res, 35, 1066, 10.1016/S0022-2275(20)40102-6
Evans, 1998, Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online, Hum Mutat, 12, 217
Foubert, 1997, A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry, Hum Mutat, 10, 179, 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E
Murugasu, 1998, Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation, J R Soc Med, 91, 205, 10.1177/014107689809100410
Jap, 2003, Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan, Pancreas, 27, 122, 10.1097/00006676-200308000-00003
Takagi, 2000, A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency, Biochim Biophys Acta, 1502, 433, 10.1016/S0925-4439(00)00067-3
Hu, 2007, Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees, J Lipid Res, 48, 1681, 10.1194/jlr.M600382-JLR200
Saika, 2003, Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis, Eur J Clin Invest, 33, 216, 10.1046/j.1365-2362.2003.01129.x
Causeret, 2001, [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene], Ann Dermatol Venereol, 128, 1343
Reymer, 1995, A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis, Nat Genet, 10, 28, 10.1038/ng0595-28
Kobayashi, 1999, A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia, Clin Chim Acta, 285, 173, 10.1016/S0009-8981(99)00060-1
Kavazarakis, 2004, Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study, Eur J Pediatr, 163, 462, 10.1007/s00431-004-1474-1
Bertolini, 2000, Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)), Clin Genet, 57, 140, 10.1034/j.1399-0004.2000.570209.x
Hölzl, 1994, Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene, J Lipid Res, 35, 2161, 10.1016/S0022-2275(20)39922-3
Gotoda, 1989, Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency, Biochem Biophys Res Commun, 164, 1391, 10.1016/0006-291X(89)91824-X
Li, 1999, [The application of end user computing (EUC) for detection of lipoprotein lipase gene abnormality], Rinsho Byori, 47, 737
Kobayashi, 1993, A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia, Biochem Biophys Res Commun, 191, 1046, 10.1006/bbrc.1993.1323
Pepe, 1994, A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity, Biochem Biophys Res Commun, 199, 570, 10.1006/bbrc.1994.1266
Ma, 1994, Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries, Hum Mutat, 3, 52, 10.1002/humu.1380030109
Hooper, 2008, Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations, Ann Clin Biochem, 45, 102, 10.1258/acb.2007.007080
Previato, 1994, A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia, J Lipid Res, 35, 1552, 10.1016/S0022-2275(20)41153-8
Nierman, 2006, Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations, J Inherit Metab Dis, 29, 686, 10.1007/s10545-006-0310-3
Henderson, 1996, A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase, Biochem Biophys Res Commun, 227, 189, 10.1006/bbrc.1996.1487
Henderson, 1998, A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis, Clin Chim Acta, 269, 1, 10.1016/S0009-8981(97)00144-7
Hokanson, 1999, Functional variants in the lipoprotein lipase gene and risk cardiovascular disease, Curr Opin Lipidol, 10, 393, 10.1097/00041433-199910000-00003
Groenemeijer, 1997, Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprot, Circulation, 95, 2628, 10.1161/01.CIR.95.12.2628
Zhang, 1996, Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function, Biochim Biophys Acta, 1302, 159, 10.1016/0005-2760(96)00059-8
Wittrup, 1999, Lipoprotein Lipase Mutations, Plasma Lipids and Lipoproteins, and Risk of Ischemic Heart Disease : A Meta-Analysis, Circulation, 99, 2901, 10.1161/01.CIR.99.22.2901
Overgaard, 2013, Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene, Ann Clin Biochem, 50, 374, 10.1177/0004563213477393
Stefanutti, 2013, A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment, Atheroscler Suppl, 14, 73, 10.1016/j.atherosclerosissup.2012.10.020
Martín-Campos, 2014, Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency, Clin Chim Acta, 429, 61, 10.1016/j.cca.2013.11.025
Hooper, 2014, Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia, Ann Clin Biochem, 51, 485, 10.1177/0004563214525767
Chen, 2014, A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis, Lipids Health Dis, 13, 52, 10.1186/1476-511X-13-52
Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248
Kumar, 2009, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat Protoc, 4, 1073, 10.1038/nprot.2009.86
2002, Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report, Circulation, 106, 3143, 10.1161/circ.106.25.3143
Christian, 2011, Prevalence of severe (500 to 2,000 mg/dl) hypertriglyceridemia in United States adults, Am J Cardiol, 107, 891, 10.1016/j.amjcard.2010.11.008
Surendran, 2012, Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia, J Intern Med, 272, 185, 10.1111/j.1365-2796.2012.02516.x
Johansen, 2012, Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia, Circ Cardiovasc Genet, 5, 66, 10.1161/CIRCGENETICS.111.960864
Brunzell, 2014, 381
Peterson, 2002, Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene, J Lipid Res, 43, 398, 10.1016/S0022-2275(20)30146-2
Young, 2011, GPIHBP1, an endothelial cell transporter for lipoprotein lipase, J Lipid Res, 52, 1869, 10.1194/jlr.R018689