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Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the α and β subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170i...

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Detalhes bibliográficos
Main Authors: Muro, S, Perez-Cerda, C, Rodriguez-Pombo, P, Perez, B, Briones, P, Ribes, A, Ugarte, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734372/
https://ncbi.nlm.nih.gov/pubmed/10353789
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