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Article

Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.

Archives of dermatology - 1 Jul 2002

Ged Cécile, Ozalla D, Herrero C, Lecha M, Mendez M, de Verneuil H, Mascaro J M

Abstract excerpt

BACKGROUND: Hepatoerythropoietic porphyria (HEP) is usually a severe form of cutaneous porphyria, characterized biochemically by an increased urinary excretion of polycarboxylated porphyrins. The disease is the result of a profound deficiency (<10% of normal activity) of uroporphyrinogen decarboxylase (UROD) activity. Hepatoerythropoietic porphyria is inherited as an autosomal recessive trait, whereas familial...

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Source

Identifiers

PMID: 12071824
DOI: 10.1001/archderm.138.7.957

Genes

UROD

Variants

Provenance

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Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.PMID 12071824Read ↗

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Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.Semantic proximity Read ↗

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.Semantic proximity Read ↗

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.Semantic proximity Read ↗

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion patternSemantic proximity Read ↗

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