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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
National Institutes of Health

Related topics

Related topics

1 relation
HPS5, 4-BP DEL, CODON 675, AGTT

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Albinism Panel (Ophthalmology) Plus
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number… Expand
2017
2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… Expand
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2015
2015
Étude d’une grande cohorte de patients atteints d’albinisme oculocutané
Introduction L’albinisme est une pathologie heterogene d’un point de vue clinique et genetique caracterisee par un nystagmus, une… Expand
2014
2014
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
2013
2013
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding… Expand
2012
2012
A homolog of the human Hermansky–Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori
Normally, many granules containing uric acid accumulate in the larval integument of the silkworm, Bombyx mori. These uric acid… Expand
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2007
2007
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and… Expand
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Highly Cited
2004
Highly Cited
2004
Characterization of BLOC‐2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and… Expand
Highly Cited
2004
Highly Cited
2004
The Hermansky-Pudlak Syndrome 3 (Cocoa) Protein Is a Component of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2)*
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… Expand
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2004
2004
Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… Expand
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