Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity
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چکیده
منابع مشابه
Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.
We describe four patients from three independent families with the m.1644G>A in the MT-TV gene, previously reported without demonstration of its deleterious impact. Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibers and respiratory defect in cybrids as shown by spectrophotometric assays and polarography. The mutation appeared to have a very steep ...
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ژورنال
عنوان ژورنال: Mitochondrion
سال: 2014
ISSN: 1567-7249
DOI: 10.1016/j.mito.2014.03.010