Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

	Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
	Zong, Liang 1; Guan, Jing 1; Ealy, Megan 2,3,4; Zhang, Qiujing 1; Wang, Dayong 1; Wang, Hongyang 1; Zhao, Yali 1,5; Shen, Zhirong 6; Campbell, Colleen A.2,3; Wang, Fengchao 6; Yang, Ju 1; Sun, Wei 7; Lan, Lan 1; Ding, Dalian 7; Xie, Linyi 1; Qi, Yue 1; Lou, Xin 8; Huang, Xusheng 9; Shi, Qiang 9; Chang, Suhua10 ; Xiong, Wenping 1; Yin, Zifang 1; Yu, Ning 1; Zhao, Hui 1; Wang, Jun11 ; Wang, Jing10 ; Salvi, Richard J.7; Petit, Christine 12; Smith, Richard J. H.2,3; Wang, Qiuju 1
摘要	Background Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified.
	2015-08-01
语种	英语
发表期刊	JOURNAL OF MEDICAL GENETICS
ISSN	0022-2593
卷号	52 期号:8 页码:523-531
期刊论文类型	Article
收录类别	SCI
WOS记录号	WOS:000358443800003
引用统计	被引频次：73[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	http://ir.psych.ac.cn/handle/311026/15200
专题	中国科学院心理健康重点实验室
作者单位	1.Peoples Liberat Army Gen Hosp, Dept Otolaryngol Head & Neck Surg, Inst Otolaryngol, Beijing 100853, Peoples R China 2.Univ Iowa, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA 3.Univ Iowa, Dept Otolaryngol Head & Neck Surg, Iowa City, IA 52242 USA 4.Stanford Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, Stanford, CA 94305 USA 5.Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Otorhinolaryngol, Beijing, Peoples R China 6.Natl Inst Biol Sci, Beijing, Peoples R China 7.SUNY Buffalo, Ctr Hearing & Deafness, Dept Commun Disorders & Sci, Buffalo, NY 14260 USA 8.Peoples Liberat Army Gen Hosp, Dept Radiol, Beijing 100853, Peoples R China 9.Peoples Liberat Army Gen Hosp, Dept Neurol, Beijing 100853, Peoples R China 10.Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China 11.BGI Shenzhen, Shenzhen, Peoples R China 12.Coll France, Unite Genet & Physiol Audit, Inst Pasteur, F-75231 Paris, France
推荐引用方式 GB/T 7714	Zong, Liang,Guan, Jing,Ealy, Megan,et al. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder[J]. JOURNAL OF MEDICAL GENETICS,2015,52(8):523-531.
APA	Zong, Liang.,Guan, Jing.,Ealy, Megan.,Zhang, Qiujing.,Wang, Dayong.,...&Wang, Qiuju.(2015).Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.JOURNAL OF MEDICAL GENETICS,52(8),523-531.
MLA	Zong, Liang,et al."Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder".JOURNAL OF MEDICAL GENETICS 52.8(2015):523-531.

条目包含的文件
文件名称/大小	文献类型	版本类型	开放类型	使用许可
WOS_000358443800003.（6073KB）	期刊论文	出版稿	暂不开放	CC BY-NC-SA	请求全文