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Paper Details

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
PLoS One
8
2017
BLOC-2, HPS, HPS-5, HPS3, HPS5, HPS6, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome type 5, acceptor splice site, bleeding diathesis, genetic disorders, nucleotides, oculocutaneous albinism, patient, patient cells, pulmonary fibrosis, skin fibroblasts, transcript, tyrosinase
Author NameAffiliation
Brian P BrooksNational Eye Institute, National Institutes of Health
David R AdamsNational Institutes of Health
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
David R AdamsNational Institutes of Health
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Institutes of Health
May Christine V MalicdanOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Institutes of Health
May Christine V MalicdanOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
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