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Article

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.

Journal of inherited metabolic disease - 1 Aug 2006

To-Figueras J, Badenas C, Carrera C, Muñoz C, Milá M, Lecha M, Herrero C

Abstract excerpt

Acute intermittent porphyria (AIP) is a metabolic disease with a variable prevalence among different countries. In some areas of southern Europe it remains to be fully evaluated. We undertook a genetic and biochemical study of 16 unrelated Spanish AIP patients and relatives. The genetic analyses showed they harboured the following mutations in the porphobilinogen deaminase gene: R173W, G111R, L278P, L238P, R116W,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydroxymethylbilane Synthase

Share to Models, Genetic

Share to Polymorphism, Single-Stranded Conformational

Share to Porphyria, Acute Intermittent

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Source

Identifiers

PMID: 16817012
DOI: 10.1007/s10545-006-0344-6

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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