title: A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
authors.affiliation: Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: E C
authors.initials: EC
authors.lastname: Dell'Angelica
authors.forename: L
authors.initials: L
authors.lastname: Hartnell
authors.forename: J S
authors.initials: JS
authors.lastname: Bonifacino
authors.forename: W A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D033966:Adaptor Protein Complex beta Subunits; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics*; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D033966:Adaptor Protein Complex beta Subunits; D008565:Membrane Proteins