Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
ARL2BP 基因突变(编码 ADP 核糖基化因子样 2 结合蛋白)可导致常染色体隐性视网膜色素变性
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.06.003
Alice E Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I Sergouniotis, Naushin H Waseem, Robert Wilson, Richard A Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J Hardcastle, Michael E