کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2828300 1162484 2006 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی مولکولی
پیش نمایش صفحه اول مقاله
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain
چکیده انگلیسی

Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other genetic mutations including those in the SLC40A1 gene. This report describes the clinical and laboratory findings of two Spanish families with autosomal dominant iron overload associated with previously unrecognized Ferroportin 1 mutations (p.R88T and p.I180T). The phenotype of iron overload in the patients carrying these mutations could correspond to the group of clinical mutations that lose their iron export function.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 36, Issue 1, January–February 2006, Pages 41–45
نویسندگان
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