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Article

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.

Human mutation - 1 Nov 2005

Pischik Elena, Mehtälä Susanna, Kauppinen Raili

Abstract excerpt

Acute intermittent porphyria (AIP) is a metabolic disease due to a partial deficiency of hydroxymethylbilane synthase (HMBS) in heme biosynthesis. Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene. Three novel mutations, c.825+5G>C,...

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Source

Identifiers

PMID: 16211556
DOI: 10.1002/humu.9381

Genes

AIP
HMBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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