Article
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009
Van Tuyll Van Serooskerke A M, Schneider-Yin X, Schimmel R J, Bladergroen R S, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder E I
Abstract excerpt
Variegate porphyria (VP), one of the acute hepatic porphyrias, results from an autosomal dominantly inherited deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in heme biosynthesis. Affected individuals can develop both cutaneous symptoms and potentially life-threatening neurovisceral attacks. Thirty unrelated VP index patients and families are currently known in the Swiss Porphyrin Reference...
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