Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

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 genetic c...

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Publicado en:BMC Med Genet
Autores principales: Yang, Qi, Xu, Hong, Luo, Jingsi, Li, Mengting, Yi, Sheng, Zhang, Qinle, Geng, Guoxing, Feng, Shihan, Fan, Xin
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7137301/
https://ncbi.nlm.nih.gov/pubmed/32252659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01008-y
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