Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity - Oh, J; Ho, L; Ala-Mello, S; Amato, D; Armstrong, L; Bellucci, S; Carakushansky, G; Ellis, JP; Fong, CT; Green, JS; Heon, E; Legius, E; Levin, AV; Nieuwenhuis, HK; Pinckers, A; Tampura, N; Whiteford, ML; Tamasaki, H; Spritz, RA (Am J Hum Genet, 1998)