A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9
American journal of human genetics (2011) - Comments
doi: 10.1016/j.ajhg.2011.05.009  pubmed: 21665000 

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