GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
نویسندگان
چکیده
منابع مشابه
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
BACKGROUND A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS Targeted X-chromosome exome sequencing was con...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2017
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2016-104320