Article
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Human molecular genetics - 1 Mar 1996
Deybach J C, Puy H, Robréau A M, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
Abstract excerpt
Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity. The molecular defect responsible for VP was investigated by sequencing PPOX gene coding sequence from four patients in three unrelated VP families of French Caucasian origin. In a first patient, a point insertion of a G at position 1022 of the cDNA,...
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