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Article

Identification of a new mutation responsible for hepatoerythropoietic porphyria.

European journal of clinical investigation - 1 Apr 1991

Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo P H

Abstract excerpt

A deficiency in the activity of uroporphyrinogen decarboxylase (URO-D), the fifth enzyme of the haem biosynthetic pathway, is found in two hereditary diseases, familial porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria (HEP). Little is known about the genetic relationship between those two diseases and it has been postulated that HEP is the homozygous form of PCT. A URO-D cDNA was cloned from an...

Topics

Amino Acid Sequence
Base Sequence
Cell Line, Transformed
Humans
Liver Diseases
Molecular Sequence Data
Mutation
Nucleic Acid Probes
Porphyrias
Skin Diseases
Uroporphyrinogen Decarboxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1905636
DOI: 10.1111/j.1365-2362.1991.tb01814.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1905636-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Identification of a new mutation responsible for hepatoerythropoietic porphyria.PMID 1905636Read ↗

Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.Semantic proximity Read ↗

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).Semantic proximity Read ↗

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.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 ↗

Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.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: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Semantic proximity Read ↗

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

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.Semantic proximity Read ↗

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.Semantic proximity Read ↗

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.Semantic proximity Read ↗

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.Semantic proximity Read ↗

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