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Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predispose...
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ژورنال
عنوان ژورنال: Science
سال: 2020
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.368.6495.1077-b