A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9
BLOC-1 突变筛查显示 Hermansky-Pudlak 综合征 9 型中 PLDN 发生突变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.05.009
Andrew R Cullinane, James A Curry, Carmelo Carmona-Rivera, C Gail Summers, Carla Ciccone, Nicholas D Cardillo, Heidi Dorward, Richard A Hess, James G White, David Adams, Marjan Huizing, William A Gahl