Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing | Zendy

Guangqian Xing | Zendy; Jun Yao | Zendy; Bin Wu | Zendy; Tingting Liu | Zendy; Qinjun Wei | Zendy; Cheng Liu | Zendy; Yajie Lu | Zendy; Zhibin Chen | Zendy; Heng Zheng | Zendy; Xiaonan Yang | Zendy; Xin Cao | Zendy

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Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing

Author(s) -

Guangqian Xing,

Jun Yao,

Bin Wu,

Tingting Liu,

Qinjun Wei,

Cheng Liu,

Yajie Lu,

Zhibin Chen,

Heng Zheng,

Xiaonan Yang,

Xin Cao

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.90

Subject(s) - exome sequencing , identification (biology) , hearing loss , genetics , exome , computational biology , biology , gene , medicine , mutation , audiology , botany

Various forms of hearing loss have genetic causes, but many of the responsible genes have not yet been identified. Here, we describe a large seven-generation Chinese family with autosomal dominant nonsyndromic hearing loss that has been excluded as being caused by known deafness gene mutations associated with autosomal dominant nonsyndromic hearing loss with the aim of identifying a novel causative gene involved in deafness.

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