Article
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Nature genetics - 1 Mar 2002
Suzuki Tamio, Li Wei, Zhang Qing, Karim Amna, Novak Edward K, Sviderskaya Elena V, Hill Simon P, Bennett Dorothy C, Levin Alex V, Nieuwenhuis H Karel, Fong Chin-To, Castellan Claudio, Miterski Bianca, Swank Richard T, Spritz Richard A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes. HPS is common in Puerto Rico, where it is caused by mutations in the genes HPS1 and, less often, HPS3 (ref. 8). In contrast, only half of non-Puerto Rican individuals with HPS have mutations in HPS1 (ref....
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