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HERMANSKY-PUDLAK SYNDROME 4

Known as: HPS4 
National Institutes of Health

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1 relation
HPS4 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Albinism Panel (Ophthalmology) Plus
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number… 
2016
2016
Evaluation of Pavement Markings on Challenging Surfaces
The objective of this research was to conduct a field trial to evaluate the marking performance of different combinations of… 
2016
2016
Cigarette Smoking Induces Changes in Airway Epithelial Expression of Genes Associated with Monogenic Lung Disorders.
Although rare, inherited lung diseases provide important insights into disease pathogeneses. The two most common, cystic fibrosis… 
2010
2010
Divalent interaction between HPS1 and HPS4 to form the Biogenesis of Lysosome‐related Organelles 3 (BLOC‐3)
Hermansky‐Pudlak Syndrome (HPS) [MIM#203300] is a rare autosomal recessive disorder characterized by oculocutaneous albinism, a… 
2009
2009
1 ASSEMBLY OF THE BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX-3 ( BLOC-3 ) AND ITS INTERACTION WITH RAB 9
The Hermansky-Pudlak syndrome (HPS) is a genetic hypopigmentation and bleeding disorder caused by defective biogenesis of… 
2009
2009
A patient with no known liver disease presenting with a sentinel variceal hemorrhage
A45-year-old previously healthy white man presented with a variceal hemorrhage and required endoscopic band ligation. On imaging… 
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