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HERMANSKY-PUDLAK SYNDROME 6

Known as: HPS6 
National Institutes of Health

Related topics

Related topics

1 relation
HPS6, 4-BP DEL, CODON 571, TCTG

Papers overview

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2019
2019
NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in… 
2019
2019
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis… 
2017
2017
Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS
Hermansky–Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with… 
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… 
2016
2016
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells
2016
2016
The ophthalmic presentation of Hermansky–Pudlak syndrome 6
Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism… 
2016
2016
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
2013
2013
snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5
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
Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6
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
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… 
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