S65C and other mutations in the haemochromatosis gene in the Czech population

HFE-linked hereditary haemochromatosis is a common autosomal recessive disease among Caucasians. The primary pathogenetic mechanism is excessive absorption of iron, which is deposited in various organs with their subsequent damage. In 1996 the gene responsible for haemochromatosis was detected--the...

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Veröffentlicht in:	Folia biologica 2005-01, Vol.51 (6), p.172-176
Hauptverfasser:	Cimburova, M, Putova, I, Provaznikova, H, Pinterova, D, Horak, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Czech Republic - epidemiology DNA Mutational Analysis Gene Frequency Genetic Predisposition to Disease Genetic Testing Hemochromatosis - epidemiology Hemochromatosis - genetics Hemochromatosis Protein Histocompatibility Antigens Class I - genetics Humans Infant, Newborn Membrane Proteins - genetics Mutation Neonatal Screening
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