Article
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Jul 1999
Frank J, Nelson J, Wang X, Yang L, Ahmad W, Lam H, Jugert F K, Kalka K, Poh-Fitzpatrick M B, Goerz G, Merk H F, Christiano A M
Abstract excerpt
BACKGROUND: Erythropoietic protoporphyria (EPP) results from an inherited deficiency of the last enzyme of the heme biosynthetic pathway, ferrochelatase (FC). EPP is usually inherited in an autosomal dominant fashion, and the mutations in the FC gene on chromosome 18q21.3 detected in EPP patients are heterogeneous. METHODS: In this study, we screened the FC gene for mutations in 12 patients from 10 unrelated...
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