https://www.selleckchem.com/pr....oducts/epz015666.htm
Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed. mitochondrial DNA (mtDNA) m.1555AG/ and m.9541TC/ mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype obser
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