Biochemical Assessment and Monitoring of Mitochondrial Disease
نویسندگان
چکیده
منابع مشابه
diagnostic and developmental potentials of dynamic assessment for writing skill
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متن کاملBiochemical analysis of human POLG2 variants associated with mitochondrial disease.
Defects in mitochondrial DNA (mtDNA) maintenance comprise an expanding repertoire of polymorphic diseases caused, in part, by mutations in the genes encoding the p140 mtDNA polymerase (POLG), its p55 accessory subunit (POLG2) or the mtDNA helicase (C10orf2). In an exploration of nuclear genes for mtDNA maintenance linked to mitochondrial disease, eight heterozygous mutations (six novel) in POLG...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2018
ISSN: 2077-0383
DOI: 10.3390/jcm7040066