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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
National Institutes of Health

Papers overview

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2018
2018
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number… Expand
2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… Expand
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2015
2015
Introduction L’albinisme est une pathologie heterogene d’un point de vue clinique et genetique caracterisee par un nystagmus, une… Expand
2014
2014
2013
2013
Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding… Expand
2012
2012
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
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
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
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 (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… Expand