Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

doi:10.1046/j.1365-2141.1998.01037.x

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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,...

Topics

Adult
Chromosomes, Human, Pair 6
Female
Germany
Hemochromatosis
Heterozygote
Homozygote
Humans
Iron
Male
Middle Aged
Mutation
Pedigree
Prevalence

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