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HERMANSKY-PUDLAK SYNDROME 2

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

Papers overview

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2019
2019
Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial… Expand
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
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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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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Review
2013
Review
2013
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes… 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
Highly Cited
2007
Highly Cited
2007
Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and pulmonary fibrosis are features of Hermansky… Expand
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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