Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry

1997 Goldstein, 2001, 2863 Bouhairie, 2015, Familial hypercholesterolemia, Cardiol Clin, 33, 169, 10.1016/j.ccl.2015.01.001 Defesche, 1993, Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia, Arch Intern Med, 153, 2349, 10.1001/archinte.1993.00410200071008 Nordestgaard, 2013, Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society, Eur Heart J, 34, 3478, 10.1093/eurheartj/eht273 Chiou, 2011, Array-based resequencing for mutations causing familial hypercholesterolemia, Atherosclerosis, 216, 383, 10.1016/j.atherosclerosis.2011.02.006 Umans-Eckenhausen, 2001, Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands, Lancet, 357, 165, 10.1016/S0140-6736(00)03587-X Homsma, 2008, Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance, Eur J Hum Genet, 16, 14, 10.1038/sj.ejhg.5201940 Leren, 2004, Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program, Semin Vasc Med, 4, 75, 10.1055/s-2004-822989 Defesche, 2010, Defining the challenges of FH screening for familial hypercholesterolemia, J Clin Lipidol, 4, 338, 10.1016/j.jacl.2010.08.022 Palacios, 2012, Molecular characterization of familial hypercholesterolemia in Spain, Atherosclerosis, 221, 137, 10.1016/j.atherosclerosis.2011.12.021 Futema, 2012, Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia, J Med Genet, 49, 644, 10.1136/jmedgenet-2012-101189 Vandrovcova, 2013, The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia, Genet Med, 15, 948, 10.1038/gim.2013.55 Norsworthy, 2014, Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study, BMC Med Genet, 15, 70, 10.1186/1471-2350-15-70 Gabriel, 2009, SNP genotyping using the AgenaAgena MassARRAY iPLEX platform, Curr Protoc Hum Genet, Chapter 2, 10.1002/0471142905.hg0212s60 Calvo, 2010, High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency, Nat Genet, 42, 851, 10.1038/ng.659 Wright, 2008, Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations, Clin Genet, 74, 463, 10.1111/j.1399-0004.2008.01071.x Henderson, 2016, The genetics and screening of familial hypercholesterolaemia, J Biomed Sci, 23, 39, 10.1186/s12929-016-0256-1 Callis, 1998, Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations, Mol Cell Probes, 12, 149, 10.1006/mcpr.1998.0164 Bodamer, 2002, Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia, Clin Chem, 48, 1913, 10.1093/clinchem/48.11.1913 Hu, 2013, Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases, Int J Cardiol, 167, 762, 10.1016/j.ijcard.2012.03.048 Chiou, 2016, Genetic diagnosis of familial hypercholesterolemia in Han Chinese, J Clin Lipidol, 10, 490, 10.1016/j.jacl.2016.01.009 Chiou, 2010, Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia, Am J Cardiol, 105, 1752, 10.1016/j.amjcard.2010.01.356 Chiou, 2012, Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China, Gene, 498, 100, 10.1016/j.gene.2012.01.092 Sozen, 2004, Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis, Atheroscler Suppl, 5, 7, 10.1016/j.atherosclerosissup.2004.09.003 Azian, 2006, Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and familial defective apolipoprotein B100 (FDB), Malays J Pathol, 28, 7 Whittall, 2010, Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients, Ann Clin Biochem, 47, 44, 10.1258/acb.2009.009076 Tai, 2012, The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots, Clin Chim Acta, 413, 422, 10.1016/j.cca.2011.10.023 Laurie, 2009, Evaluation of high-resolution melting analysis for screening the LDL receptor gene, Clin Biochem, 42, 528, 10.1016/j.clinbiochem.2008.11.015 Laios, 2008, Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia, Clin Biochem, 41, 38, 10.1016/j.clinbiochem.2007.09.017 Sharma, 2012, Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation, Health Technol Assess, 16, 1, 10.3310/hta16170 Dušková, 2011, An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia, Atherosclerosis, 216, 139, 10.1016/j.atherosclerosis.2011.01.023 Stef, 2013, A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe, J Mol Diagn, 15, 362, 10.1016/j.jmoldx.2013.01.005