Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Propionyl-CoA carboxylase (PCC) is a mitochondrial biotin-dependent enzyme composed of an equal number of alpha and beta subunits. Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) gene can cause the inherited metabolic disease propionic acidemia (PA), which can be life threatening in the...

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Detalhes bibliográficos
Main Authors: Rodríguez-Pombo, P, Hoenicka, J, Muro, S, Pérez, B, Pérez-Cerdá, C, Richard, E, Desviat, L R, Ugarte, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377311/
https://ncbi.nlm.nih.gov/pubmed/9683601
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