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High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a partial deficiency of porphobilinogen (PBG) deaminase. Different subtypes of the disease have been defined, and more than 10 different mutations have been described. We focused our study on exon 10, since we previ...

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Detalhes bibliográficos
Main Authors: Gu, X F, de Rooij, F, Voortman, G, Te Velde, K, Nordmann, Y, Grandchamp, B
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682727/
https://ncbi.nlm.nih.gov/pubmed/1496994
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