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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
National Institutes of Health

Related topics

Related topics

1 relation
HPS5, 4-BP DEL, CODON 675, AGTT

Papers overview

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Review
2020
Review
2020
Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and… 
2018
2018
Albinism Panel (Ophthalmology) Plus
The Blueprint Genetics Albinism Panel (version 3, Mar 01, 2018) Plus Analysis includes sequence analysis and copy number… 
2015
2015
Étude d’une grande cohorte de patients atteints d’albinisme oculocutané
2014
2014
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
2009
2009
Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in… 
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