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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… 
2019
2019
Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis… 
2017
2017
Hermansky–Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with… 
2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… 
2016
2016
Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism… 
2013
2013
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes… 
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… 
Highly Cited
2004
Highly Cited
2004
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and…