Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the PCCA or PCCB genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA who was born to consanguineous parents. Biochemical analysis was perfor...

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Detalles Bibliográficos
Autores principales: Ibrahim, Ali Zaki, Thirumal Kumar, D., Abunada, Taghreed, Younes, Salma, George Priya Doss, C., Zaki, Osama K., Zayed, Hatem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502849/
https://www.ncbi.nlm.nih.gov/pubmed/32995289
http://dx.doi.org/10.1016/j.ymgmr.2020.100645

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