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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
1999
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734372/ https://ncbi.nlm.nih.gov/pubmed/10353789 |
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