HPS5 gene

Known as: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2, ALPHA-INTEGRIN-BINDING PROTEIN 63, AIBP63 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2004-2017
01220042017

Papers overview

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2018
2018
Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic… (More)
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2017
2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in… (More)
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2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… (More)
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2009
2009
HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding. Eight human genes are… (More)
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2004
2004
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… (More)
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