Global prevalence of putative haemochromatosis mutations.
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Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, eds. The molecular basis of inherited disease. New York: McGraw-Hill, 1995:2237-69.
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110: 1107-119.
Olssen KS, Ritter B, Rosen U, Heedman PA, Staugard F. Prevalence of iron overload in central Sweden. Acta Med Scand 1983;213:145-50.
Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-62.
Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary haemochromatosis. Blood Cells Mol Dis 1996;22: 11 Jou1a8n7-o9l4l.e AM, Gandon G,Jezequel P, et al. Scientific correspondence. Nat Genet 1996;14:251-2.
Calandro L, Thorsen T, Barcellos L, Griggs J, Baer D, Sensabaugh GF. Mutation analysis in hereditary haemochromatosis - commentary. Blood Cells Mol Dis 1996;22:194A- B.
Simon M, LeMignon L, Fauchet R, et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HIA association. Am J Hum Genet 1987;41:89-105.
Smith BN, Kantrowitz W, Grace ND, et al. Is British-Irish ancestry a risk factor for genetic hemochromatosis? International association for the study of disorders of iron metabolism, Boston, 1995:A33:75.
Karlsson M, Ikkala E, Reunanen A. Prevalence of hemochromatosis in Finland. Acta Med Scand 1988;224: 385-90.
Cavalli-Sforza LL, Piazza A. Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur JHum Genet 1993;1:3-18.
Oliver M, Scully L, Guiraudon C, Adams PC. Non-HLA- linked hemochromatosis in a Chinese woman. Dig Dis Sci 1995;40: 1589-91.
Eason RJ, Aston CE, Adams PC, Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust NZJtMed 1990;29:226-30.
Bothwell TH, Abrahams C, Bradlow BA, Charlton RW. Idiopathic and Bantu hemochromatosis - comparative histological study. Arch Pathol 1965;79: 163-8.
Gordeuk V, Mukiibi J, Hasstedt SJ, et al. Iron overload in Africa: interaction between a gene and dietary iron content. N EnglJ Med 1992;326:95-100.
Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. Am J Med 1995;99:616-23.
Baer D. Hereditary iron overload and African Americans. Am JMed 1996;100:5-8.
Wurapa RK, Gordeuk VR, Brittenham GM, Khiyami A, Schechter GP, Edwards CQ. Primary iron overload in African Americans. Am JMed 1996;101:9-18.
Moirand R, Mortaji AM, Loreal 0, Paillard F, Brissot P, Deugnier Y A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997;349:95-7.
Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominat hyperferritinaemia and cataract. Nat Genet 1995;11:444-6.
Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemiacataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-3.
MacDonald RA. Hemochromatosis and cirrhosis in different geographic areas. Am JMed Sci 1965;249:36-46.
Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B. Hemochromatose idiopathique. Maladie associ&e a l'antigene tissulaire HL-A3? NouvPresse Med 1975;4: 1432.
Treacy E, ByckS, Clow C, Scriver CR. "Celtic" phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.Eur3 Hum Genet 1993;1:220-8.
Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Molecular basis of cystathionine 3-synthase deficiency in pyroxidone responsive and nonresponsive homocystinuria. Hum Mol Genet 1993;2:1857-60.
Long CC, Marks R. Increased risk of skin cancer: another Celtic myth? A review of Celtic ancestry and other risk factors for malignant and nonmelanoma skin cancer. J Am Acad Dermatol 1995;33:658-61.
MartinsonJJ, Chapman NH, Rees DC, Liu YT, Clegg JB. Global distribution of the CCR-5 gene 32 basepair deletion. Nat Genet (in press).
Cox DW, Woo SLC, Mansfield T. DNA restriction fragments associated with al-antitrypsin indicate a single origin for deficiency allele PIZ. Nature 1985;316:79-81.
The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4: 167-77.
Morral N, Bertranpetit J, Estivill X, et al. The origin of the major cystic fibrosis mutation (AF508) in European populations. Nat Genet 1994;7:169-75.
SawcerS, Jones HB, Feakes R, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996;13:464-8.
The Multiple Sclerosis Genetics Group, represented by Haines JL, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. Nat Genet 1996;13:469-71.
Daniels SE, BhattacharyaS, James A, et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996; 383:247-50.