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    Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology

    Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis a...

    Ling-Hui Qu, **n **, Hai-Wei Xu, Shi-Ying Li… in Molecular Genetics and Genomics (2015)