Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89
编码赖氨酰tRNA合成酶的KARS基因突变会导致常染色体隐性遗传的非综合征性听力障碍DFNB89。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.05.018
Santos-Cortez, Regie Lyn P; Lee, Kwanghyuk; Azeem, Zahid; Antonellis, Patrick J; Pollock, Lana M; Khan, Saadullah; Irfanullah; Andrade-Elizondo, Paula B; Chiu, Ilene; Adams, Mark D; Basit, Sulman; Smith, Joshua D; Nickerson, Deborah A; McDermott, Brian M Jr; Ahmad, Wasim; Leal, Suzanne M