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HERMANSKY-PUDLAK SYNDROME 2

Known as: HPS2, Hermansky Pudlak syndrome 2, Platelet defects and oculocutaneous albinism 
 
National Institutes of Health

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2019
2019
Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial… Expand
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2017
2017
Hermansky-Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta-3A subunit of the adaptor protein (AP)-3… Expand
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Highly Cited
2016
Highly Cited
2016
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently… Expand
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2016
2016
Hermansky-Pudlak syndrome type 2 (HPS2) is a primary immunodeficiency due to adaptor protein-3 (AP-3) complex deficiency. HPS2… Expand
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2013
2013
Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene… Expand
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2012
2012
BackgroundHermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function… Expand
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2010
2010
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex… Expand
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2010
2010
Hedysarum polybotrys polysaccharide (HPS) is the principal active fraction responsible for the antidiabetic properties of this… Expand
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2007
2007
Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and pulmonary fibrosis are features of Hermansky… Expand
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2003
2003
Tim-3, a member of the T cell immunoglobulin mucin family, is expressed by TH1 cells. Analysis of Tim-3–Tim3 ligand signaling now… Expand
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