Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA. Screening both the cDNA and the gene of individuals with the simple A form of PC deficiency revealed an 182...

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Detalhes bibliográficos
Main Authors: Carbone, M A, MacKay, N, Ling, M, Cole, D E, Douglas, C, Rigat, B, Feigenbaum, A, Clarke, J T, Haworth, J C, Greenberg, C R, Seargeant, L, Robinson, B H
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377163/
https://ncbi.nlm.nih.gov/pubmed/9585612
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