Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
纯合性作图揭示了早发性视锥细胞光感受器疾病患者存在PDE6C基因突变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.06.016
Thiadens, Alberta A H J; den Hollander, Anneke I; Roosing, Susanne; Nabuurs, Sander B; Zekveld-Vroon, Renate C; Collin, Rob W J; De Baere, Elfride; Koenekoop, Robert K; van Schooneveld, Mary J; Strom, Tim M; van Lith-Verhoeven, Janneke J C; Lotery, Andrew J; van Moll-Ramirez, Norka; Leroy, Bart P; van den Born, L Ingeborgh; Hoyng, Carel B; Cremers, Frans P M; Klaver, Caroline C W