title: A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
abstract: The Hermansky-Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase-positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome-related organelles. In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here.
authors.affiliation: Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands. lindyanne_k@yahoo.com
authors.forename: Lindy-Anne
authors.initials: LA
authors.lastname: Korswagen
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: Suat
authors.initials: S
authors.lastname: Simsek
authors.forename: Jeroen J W M
authors.initials: JJ
authors.lastname: Janssen
authors.forename: Sonja
authors.initials: S
authors.lastname: Zweegman
mesh_terms: D000328:Adult; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D014421:Turkey
chemical_list: D002352:Carrier Proteins; C493900:HPS5 protein, human