title: Novel mutation causing Hermansky-Pudlak Syndrome Type 2.
authors.forename: Pei-Wen
authors.initials: PW
authors.lastname: Chiang
authors.forename: Elaine
authors.initials: E
authors.lastname: Spector
authors.forename: Martha
authors.initials: M
authors.lastname: Thomas
authors.forename: Melissa
authors.initials: M
authors.lastname: Frei-Jones
mesh_terms: D033963:Adaptor Protein Complex 3 / Q000235:genetics*; D033966:Adaptor Protein Complex beta Subunits / Q000235:genetics*; D002675:Child, Preschool; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C439973:AP3B1 protein, human; D033963:Adaptor Protein Complex 3; D033966:Adaptor Protein Complex beta Subunits