Article
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
Molecular genetics and metabolism - 1 Nov 2016
O'Brien Kevin J, Lozier Jay, Cullinane Andrew R, Osorio Brigitte, Nghiem Khanh, Speransky Vladislav, Zein Wadih M, Mullikin James C, Neff Anne T, Simon Karen L, Malicdan May Christine V, Gahl William A, Young Lisa R, Gochuico Bernadette R
Abstract excerpt
PURPOSE: Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism. RESULTS: The patient was...
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