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Hermansky-Pudlak Syndrome
Studies from National Institutes of Health provide new data on hermansky-pudlak syndrome
July 13th, 2009
"Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different genes,whose functions are thought to involve intracellular vesicle formation and trafficking," scientists in the United States report. "HPS has been identified in patients of nearly all ethnic groups, though it has primarily been associated with patients Of Puerto Rican, Northern European, Japanese and Israeli descent. We report oil the diagnosis of HPS type I in two...
Source: Gastroenterology Week (2009-07-13)
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