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Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
Zong, Liang1; Guan, Jing1; Ealy, Megan2,3,4; Zhang, Qiujing1; Wang, Dayong1; Wang, Hongyang1; Zhao, Yali1,5; Shen, Zhirong6; Campbell, Colleen A.2,3; Wang, Fengchao6; Yang, Ju1; Sun, Wei7; Lan, Lan1; Ding, Dalian7; Xie, Linyi1; Qi, Yue1; Lou, Xin8; Huang, Xusheng9; Shi, Qiang9; Chang, Suhua10; Xiong, Wenping1; Yin, Zifang1; Yu, Ning1; Zhao, Hui1; Wang, Jun11; Wang, Jing10; Salvi, Richard J.7; Petit, Christine12; Smith, Richard J. H.2,3; Wang, Qiuju1
AbstractBackground 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
Language英语
Source PublicationJOURNAL OF MEDICAL GENETICS
ISSN0022-2593
Volume52Issue:8Pages:523-531
SubtypeArticle
Indexed BySCI
WOS IDWOS:000358443800003
Citation statistics
Cited Times:45[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Identifierhttp://ir.psych.ac.cn/handle/311026/15200
Collection中国科学院心理健康重点实验室
Affiliation1.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
Recommended Citation
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.
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