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A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

✍ Scribed by Daniel F. Wallace; James S. Dooley; Ann P. Walker

Book ID: 118522098
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 83 KB
Volume: 116
Category: Article
ISSN: 0016-5085
DOI: 10.1016/s0016-5085(99)70505-6

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## With the C282Y Mutation in the HFE Gene To the Editor: The association between hereditary hemochromatosis and thalassemia syndrome might lead to a severe iron overload [1,2], but the results are still controversial. By PCR and restriction enzyme digestion [3], we analyzed the C282Y and H63D muta