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Article

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.

Journal of inherited metabolic disease - 1 Jan 1990

Picat C, Delfau M H, de Rooij F W, Beukeveld G J, Wolthers B G, Wadman S K, Nordmann Y, Grandchamp B

Abstract excerpt

The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the...

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PMID: 2246852
DOI: 10.1007/BF01799567

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.PMID 2246852Read ↗

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Acute intermittent porphyria: mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis.Semantic proximity Read ↗

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.Semantic proximity Read ↗

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A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.Semantic proximity Read ↗

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