Article
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
The Journal of investigative dermatology - 1 Dec 2001
Schneider-Yin X, Rüfenacht U B, Hergersberg M, Schnyder C, Deybach J C, Minder E I
Abstract excerpt
Defects in the human ferrochelatase gene lead to the hereditary disorder of erythropoietic protoporphyria. The clinical expression of this autosomal dominant disorder requires an allelic combination of a disabled mutant allele and a low-expressed nonmutant allele. Unlike most other erythropoietic protoporphyria populations, mutations identified among Swiss erythropoietic protoporphyria families to date have been...
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