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Article

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.

Human genetics - 1 Nov 1998

Puy H, Gross U, Deybach J C, Robréau A M, Frank M, Nordmann Y, Doss M

Abstract excerpt

Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial defect of the heme biosynthesis enzyme, porphobilinogen deaminase (PBGD). PBGD is encoded by two distinct mRNA species expressed in a tissue-specific manner from a single gene. One transcript is expressed in erythroid tissues, while the housekeeping transcript is expressed in all tissues. In classical AIP (95% of cases) the...

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Source

Identifiers

PMID: 9860299
DOI: 10.1007/s004390050871

Genes

AIP

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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.Semantic proximity Read ↗

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