A BLOC-1 mutation screen reveals that PLDN is mutated in hermansky-pudlak syndrome type 9

Andrew R. Cullinane, James A. Curry, Carmelo Carmona-Rivera, Carole G Summers, Carla Ciccone, Nicholas D. Cardillo, Heidi Dorward, Richard A. Hess, James G. White, David Adams, Marjan Huizing, William A. Gahl

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Medicine & Life Sciences