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HPS5 gene

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

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… Expand
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2017
2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in… Expand
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2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… Expand
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Review
2017
Review
2017
This article has been accepted for publication and undergone full peer review but has not been through the copyediting… Expand
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2009
2009
HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding. Eight human genes are… Expand
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2009
2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in… Expand
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2005
2005
Enhancement in fatigue performance of welded joints by Ultrasonic Impact Treatment (UIT) was evaluated in large-scale specimens… Expand
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Highly Cited
2004
Highly Cited
2004
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… Expand
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