Article
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
American journal of human genetics - 1 Nov 2001
Huizing M, Anikster Y, Fitzpatrick D L, Jeong A B, D'Souza M, Rausche M, Toro J R, Kaiser-Kupfer M I, White J G, Gahl W A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation. A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity...
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