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.

Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme, hydroxymethylbilane synthase (EC 4.3.1.8). Diagnosis of AIP heterozygotes is essential to prevent acute, life-threatening neurologic attacks by avoiding vari...

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Publicado en:J Clin Invest
Autores principales: Chen, C H, Astrin, K H, Lee, G, Anderson, K E, Desnick, R J
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294605/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7962538/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117543
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