Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
Abstract Background Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the g...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2020-04-01
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| Col·lecció: | BMC Medical Genetics |
| Matèries: | |
| Accés en línia: | http://link.springer.com/article/10.1186/s12881-020-01008-y |
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