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Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Genet. Med.. 2019-07; 
LiMeng,MeiLingyun,HeChufeng,ChenHongsheng,CaiXinzhang,LiuYalan,TianRunyi,TianQi,SongJian,JiangLu,LiuChang,WuHong,LiTaoxi,LiuJing,LiXiman,YiYifang,YanDenise,BlantonSusan H,HuZhengmao,LiuXuezhong,LiJiada,LingJie,Feng
Products/Services Used Details Operation
Mutagenesis Services The ABCC1-A1769G variant was generated by the Nanjing GenScript Biotechnology Company (Nanjing, China) with site-directed mutagenesis Get A Quote

摘要

To determine?the genetic etiology of deafness in a family (HN-SD01) with autosomal dominant nonsyndromic hearing loss (NSHL).

关键词

ABCC1,cochlea,extrusion pump,hearing loss,stepwise genetic anal