Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome
نویسندگان
چکیده
منابع مشابه
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2018
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-018-0517-9