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Article

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

The Journal of clinical investigation - 1 Feb 1992

Warner C A, Yoo H W, Roberts A G, Desnick R J

Abstract excerpt

Congenital erythropoietic porphyria (CEP), an inborn error of heme biosynthesis, results from the deficient activity of uroporphyrinogen III synthase (URO-synthase). This autosomal recessive disorder is heterogeneous; patients with severe disease are often transfusion dependent, while milder patients primarily have cutaneous involvement. To investigate this phenotypic heterogeneity, exonic point mutations in the...

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Identifiers

PMID: 1737856
DOI: 10.1172/JCI115637
PMCID: PMC442904

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