Genetic analysis of usher syndrome associated genes in Iranian pedigrees: The prominent role of MYO7A gene
Gene Reports(2020)
摘要
•Five novel mutations were reported in eight pedigrees suspected to have Usher syndrome.•We identified novel variants in MYO7A, CDH23, ADGRV1, USH1G, & USH2A genes.•MYO7A gene was the most mutated gene in the investigated families.•WES is a cost- and time-effective method to simultaneously analyze all identified genes in Usher syndrome.
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关键词
Usher syndrome,Mutation,Next generation sequencing
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