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HPS1 gene

Known as: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1, BLOC3S1 
National Institutes of Health

Related topics

Related topics

2 relations
HPS5 geneHPS6 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
2018
2018
Albinism Panel (Ophthalmology) Plus
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number… 
Review
2017
Review
2017
Category : Melanin Chemistry & Pigmentation ( MCP ) Title : Lessons of a day hospital : comprehensive assessment of patients with albinism in a European setting Running title : Prospective study of…
This article has been accepted for publication and undergone full peer review but has not been through the copyediting… 
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… 
2004
2004
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.
BACKGROUND AND OBJECTIVES Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among… 
Highly Cited
2000
Highly Cited
2000
Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
Hermansky-Pudlak Syndrome (HPS) is a group of related multigenic recessively inherited disorders which causes abnormalities in… 
Highly Cited
1988
Highly Cited
1988
Comparison of the amino acid sequences of human protamines HP2 and HP3 and of intermediate basic nuclear proteins HPS1 and HPS2. Structural evidence that HPS1 and HPS2 are pro-protamines.
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