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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and… 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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2015
2015
Introduction L’albinisme est une pathologie heterogene d’un point de vue clinique et genetique caracterisee par un nystagmus, une… Expand
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2014
2014
 
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2013
2013
Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding… Expand
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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
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2004
2004
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… Expand
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2004
2004
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome… Expand
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