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Article

A molecular defect in human protoporphyria.

American journal of human genetics - 1 Jun 1992

Brenner D A, Didier J M, Frasier F, Christensen S R, Evans G A, Dailey H A

Abstract excerpt

Protoporphyria is generally an autosomal dominant disease that is characterized clinically by photosensitivity and hepatobiliary disease and that is characterized biochemically by elevated protoporphyrin levels. The enzymatic activity of ferrochelatase, which catalyzes the last step in the heme biosynthetic pathway, is deficient in all tissues of patients with protoporphyria. In this study, sequencing of...

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PMID: 1376018
PMCID: PMC1682545

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A molecular defect in human protoporphyria.PMID 1376018Read ↗

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An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria.Semantic proximity Read ↗

Targeted disruption of the mouse ferrochelatase gene producing an exon 10 deletion.Semantic proximity Read ↗

Molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

Clinical implications of the molecular biology of erythropoietic protoporphyria.Semantic proximity Read ↗

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.Semantic proximity Read ↗

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

Protoporphyria.Semantic proximity Read ↗

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