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[SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 1 Nov 2012

Mao Jun, Wei Xiao-ming, Li Hong, Wang San-nan, Chen Ying

Abstract excerpt

OBJECTIVE: To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient. METHODS: The core family, consists of the patient and his parents, was recruited. Genomic DNA was extracted from peripheral blood. Mutation analysis was carried out by SNaPshot and next-generation sequencing technology. Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing. RESULTS:...

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PMID: 23302201

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