Article
Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.
Clinical chemistry and laboratory medicine - 1 Dec 2000
Klingler K R, Zech D, Wielckens K
Abstract excerpt
Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either a compound heterozygosity for the mutation CYS282Tyr and the point mutation HIS63Asp, or are homozygous for HIS63Asp....
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