Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa
编码视网膜间质蛋白聚糖2的IMPG2基因突变会导致常染色体隐性遗传性视网膜色素变性。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.07.004
Bandah-Rozenfeld, Dikla; Collin, Rob W J; Banin, Eyal; van den Born, L Ingeborgh; Coene, Karlien L M; Siemiatkowska, Anna M; Zelinger, Lina; Khan, Muhammad I; Lefeber, Dirk J; Erdinest, Inbar; Testa, Francesco; Simonelli, Francesca; Voesenek, Krysta; Blokland, Ellen A W; Strom, Tim M; Klaver, Caroline C W; Qamar, Raheel; Banfi, Sandro; Cremers, Frans P M; Sharon, Dror; den Hollander, Anneke I