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Article

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

Genomics - 1 Jan 1993

Yoo H W, Warner C A, Chen C H, Desnick R J

Abstract excerpt

Acute intermittent porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMB-synthase). Heterozygous individuals are prone to life-threatening acute neurologic attacks, which are precipitated by certain drugs and other metabolic, hormonal, and nutritional factors. Since the biochemical diagnosis...

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Identifiers

PMID: 7916736
DOI: 10.1006/geno.1993.1005

Genes

AIP

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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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Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.PMID 7916736Read ↗

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HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.Semantic proximity Read ↗

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.Semantic proximity Read ↗

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

Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.Semantic proximity Read ↗

Recent advances in the epidemiology and genetics of acute intermittent porphyriaSemantic proximity Read ↗

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.Semantic proximity Read ↗

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