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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Chen, C H, Astrin, K H, Lee, G, Anderson, K E, Desnick, R J
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1994
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados