Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

被引:182
作者
Varga, R
Kelley, PM
Keats, BJ
Starr, A
Leal, SM
Cohn, E
Kimberling, WJ
机构
[1] Boys Town Natl Res Hosp, Gene Identificat Lab, Ctr Hereditary Commun Disorders, Omaha, NE 69131 USA
[2] Louisiana State Univ, Hlth Sci Ctr, Dept Genet, New Orleans, LA 70112 USA
[3] Univ Calif Irvine, Dept Neurol, Irvine, CA USA
[4] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA
关键词
D O I
10.1136/jmg.40.1.45
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:45 / 50
页数:6
相关论文
共 31 条
[31]   A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness [J].
Yasunaga, S ;
Grati, M ;
Cohen-Salmon, M ;
El-Amraoui, A ;
Mustapha, M ;
Salem, N ;
El-Zir, E ;
Loiselet, J ;
Petit, C .
NATURE GENETICS, 1999, 21 (04) :363-369