Cargando…
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database
DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebr...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413197/ https://www.ncbi.nlm.nih.gov/pubmed/28480171 http://dx.doi.org/10.1016/j.bbacli.2017.04.001 |