An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of propionyl-CoA carboxylase (PCC; EC 6.4.1.3). Affected patients fall into two complementation groups, pccA and pccBC (subgroups B, C, and BC), resulting from deficiency of the nonidentical alpha and...

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Bibliographic Details
Main Authors: Tahara, T, Kraus, J P, Rosenberg, L E
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC53477/
https://ncbi.nlm.nih.gov/pubmed/2154743
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