Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database
نویسندگان
چکیده
منابع مشابه
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 myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neur...
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ژورنال
عنوان ژورنال: BBA Clinical
سال: 2017
ISSN: 2214-6474
DOI: 10.1016/j.bbacli.2017.04.001