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Article

Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.

Molecular and cellular probes - 1 Aug 1997

Ong P M, Lanyon W G, Graham G, Hift R J, Halkett J, Moore M R, Connor J M

Abstract excerpt

Acute intermittent porphyria (AIP) is an inborn error of haem biosynthesis caused by a variety of mutations in the gene coding for hydroxymethylbilane synthase (HMB-S). The entire coding sequence of this gene, from each of three South African AIP patients, was therefore screened for mutations using chemical cleavage mismatch (CCM) analysis and any changes detected characterized by DNA sequencing. Three single...

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Source

Identifiers

PMID: 9281416
DOI: 10.1006/mcpr.1997.0118

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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