High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Propionyl CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of amino acids, odd-chain fatty acids, and other metabolites. PCC consists of two subunits, α and β, encoded by the PCCA and PCCB genes, respectively. Inherited PCC deficiency due to mutations in e...

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Main Authors: Ravn, Kirstine, Chloupkova, Maja, Christensen, Ernst, Brandt, Niels Jacob, Simonsen, Henrik, Kraus, Jan P., Nielsen, Inge Merete, Skovby, Flemming, Schwartz, Marianne
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287078/
https://ncbi.nlm.nih.gov/pubmed/10820128
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