TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
TMEM126A基因编码一种线粒体蛋白,该基因突变会导致常染色体隐性非综合征型视神经萎缩。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.03.003
Hanein, Sylvain; Perrault, Isabelle; Roche, Olivier; Gerber, Sylvie; Khadom, Noman; Rio, Marlene; Boddaert, Nathalie; Jean-Pierre, Marc; Brahimi, Nora; Serre, Valérie; Chretien, Dominique; Delphin, Nathalie; Fares-Taie, Lucas; Lachheb, Sahran; Rotig, Agnès; Meire, Françoise; Munnich, Arnold; Dufier, Jean-Louis; Kaplan, Josseline; Rozet, Jean-Michel