Clinical Implications of the Hemochromatosis Gene
- 2 September 1999
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 341 (10) , 755-757
- https://doi.org/10.1056/nejm199909023411010
Abstract
Hereditary hemochromatosis is the most common genetic disorder in whites. The prevalence of this condition (i.e., of homozygosity for the faulty gene) in the white population is approximately 1 in 250.1,2 The localization of the gene to the short arm of chromosome 6 (6p) by means of linkage studies confirmed the genetic nature of the disorder, but the actual gene remained elusive until the advent of positional cloning. The faulty hemochromatosis gene (HFE ) was discovered in 1996,3 and since then multiple reports have confirmed that a point mutation in HFE (the substitution of tyrosine for cysteine at . . .This publication has 15 references indexed in Scilit:
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