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Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.

Propionicacidemia is an autosomal recessive metabolic disease resulting from a deficiency of propionyl-CoA carboxylase (PCC) activity. The enzyme has the structure alpha 4 beta 4, with the alpha chain containing a covalently bound biotin prosthetic group. Patients have been placed into two major com...

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Detalhes bibliográficos
Main Authors: Lamhonwah, A M, Gravel, R A
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684358/
https://ncbi.nlm.nih.gov/pubmed/3687944
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