Article
Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.
British journal of haematology - 1 Dec 1998
Nielsen P, Carpinteiro S, Fischer R, Cabeda J M, Porto G, Gabbe E E
Abstract excerpt
Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.