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Article

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

International journal of pediatric otorhinolaryngology - 1 Oct 2013

Chen Dong-Ye, Chai Yong-Chuan, Yang Tao, Wu Hao

Abstract excerpt

OBJECTIVES: To characterize the clinical features of a Chinese DFNA9 family associated with a novel COCH mutation and to confirm the proposed genotype-phenotype correlation of COCH. METHODS: Mutation screening of 79 deafness genes was performed in the proband by targeted next-generation sequencing. Co-segregation of the disease phenotype and the detected variants was confirmed in all family members by PCR...

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Source

Identifiers

PMID: 23993205
DOI: 10.1016/j.ijporl.2013.07.031

Genes

COCH

Variants

Provenance

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