Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y

Author:

Wallace Daniel F.,Walker Ann P.,Pietrangelo Antonello,Clare Michael,Bomford Adrian B.,Dixon Jeannette L.,Powell Lawrie W.,Subramaniam V.Nathan,Dooley James S.

Publisher

Elsevier BV

Subject

Hepatology

Reference22 articles.

1. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis;Feder;Nat Genet,1996

2. Uncommon mutations and polymorphisms in the hemochromatosis gene;Pointon;Genet Test,2000

3. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote;Wallace;Gastroenterology,1999

4. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands;Barton;Blood Cells Mol Dis,1999

5. Screening for haemochromatosis in Switzerland: detection of a new pathogenic mutation and two additional variants in exon 2 of the HFE gene;Liechti-Gallati;Eur J Hum Genet,1999

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