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Unique genetic profile of hereditary hemochromatosis in Russians: High frequency of C282Y mutation in population, but not in patients

✍ Scribed by Ekaterina S. Potekhina; Alexander V. Lavrov; Larisa M. Samokhodskaya; Anastasia Y. Efimenko; Alexander V. Balatskiy; Alexander A. Baev; Maria M. Litvinova; Ludmila A. Nikitina; German A. Shipulin; Nikolay P. Bochkov; Vsevolod A. Tkachuk; Valery N. Bochkov


Book ID
116304066
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
127 KB
Volume
35
Category
Article
ISSN
1079-9796

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## Abstract The aim of this study was to establish the prevalence of __HFE__ gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the __HFE__ gene. Complete results wer