Cargando…
A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
Propionic acidemia (PA) is an inborn error of metabolism, caused by mutations in either the PCCA or PCCB gene, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here we report a 6-year-old Thai boy with PA who was born to consanguineous parents. Exome sequencing identified...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785532/ https://www.ncbi.nlm.nih.gov/pubmed/27081542 http://dx.doi.org/10.1038/hgv.2015.33 |