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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...

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Detalles Bibliográficos
Autores principales:	Nurminen, Anssi, Farnum, Gregory A., Kaguni, Laurie S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Regular Article
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

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