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[期刊论文] 作者：Xi-yuHE,Yue-yingWANG,PuDAI,Jia,
来源：北京大学学报：医学版 年份：2005
Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary...
Homozygosity Mapping and Whole Exome Sequencing Identify Mutation in TMEM132E gene causing Nonsyndro
[会议论文] 作者：QijiLiu[1]XiaohanZhao[1]QianXin[1]ShanShan[1]BaichunJiang[1]RongfangQiu[1]HailingZhao[1]HuijunYuan[2]PuDai,
来源：中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 年份：2012
In this report,we identified a homozygous missense mutation in a novel gene,TMEM132E (transmembrane protein 132E),in a chinese consanguineous family with no...
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