Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
与癫痫相关的基因TBC1D24的突变也会导致非综合征性耳聋DFNB86。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.12.004
Rehman, Atteeq U; Santos-Cortez, Regie Lyn P; Morell, Robert J; Drummond, Meghan C; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A; Basra, Muhammad Asim R; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A; Raza, Syed I; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N; Friedman, Penelope L; Griffith, Andrew J; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M; Friedman, Thomas B
