Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Four mutations of the porphobilinogen (PBG) deaminase gene that result in cross-reacting immunological material (CRIM)-negative forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA from patients and by cloning of the amplified products in a bacterial exp...

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Detalhes bibliográficos
Main Authors: Delfau, M H, Picat, C, De Rooij, F, Voortman, G, Deybach, J C, Nordmann, Y, Grandchamp, B
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683312/
https://ncbi.nlm.nih.gov/pubmed/1714233
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