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HERMANSKY-PUDLAK SYNDROME 6

Known as: HPS6 
 
National Institutes of Health

Papers overview

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2019
2019
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in… Expand
2019
2019
Abstract Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis… Expand
2017
2017
Hermansky–Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with… Expand
2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… Expand
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2017
2017
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet… Expand
2016
2016
Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism… Expand
2016
2016
Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granule… Expand
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2013
2013
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes… Expand
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Highly Cited
2009
Highly Cited
2009
Background: In the last decade, Hermansky–Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to… Expand
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