Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
全外显子组测序鉴定出 GPR179 突变,导致常染色体隐性完全性先天性静止性夜盲症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.12.007
Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva,