Article
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Human heredity - 1 Jan 2001
Frank J, Aita V M, Ahmad W, Lam H, Wolff C, Christiano A M
Abstract excerpt
Variegate porphyria (VP; OMIM 176200) is characterized by a partial defect in the activity of protoporphyrinogen oxidase (PPO), the seventh enzyme of the porphyrin-heme biosynthetic pathway. The disease is usually inherited as an autosomal dominant trait displaying incomplete penetrance. In an effort to characterize the spectrum of molecular defects in VP, we identified 3 distinct mutations in 6 VP families from...
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