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Article

Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009

Méndez M, Morán-Jiménez M J, Gomez-Abecia S, García-Bravo M, Garrido-Astray M C, Fontanellas A, Poblete-Gutiérrez P, Frank J, Enriquez de Salamanca R

Abstract excerpt

Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant disorder with low penetrance that results from a partial deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. The disease is clinically characterized by acute neurovisceral attacks that are precipitated by several factors including certain drugs, steroid hormones,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19656452

Genes

AIP
HMBS

Provenance

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Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.PMID 19656452Read ↗

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