Unraveling heteroplasmy patterns with NOVOPlasty
نویسندگان
چکیده
منابع مشابه
Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.
PURPOSE To investigate the segregation pattern of the mitochondrial DNA mutation at nucleotide position 3460 responsible for Leber's hereditary optic neuropathy (LHON) and to determine the prevalence of heteroplasmy for the three primary LHON mutations at positions 11778, 3460, and 14484. METHODS Segregation analysis was performed in a cross-sectional study by determining the level of heterop...
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ژورنال
عنوان ژورنال: NAR Genomics and Bioinformatics
سال: 2019
ISSN: 2631-9268
DOI: 10.1093/nargab/lqz011