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Hermansky-Pudlak syndrome: Mutation update.

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Title: Hermansky-Pudlak syndrome: Mutation update.
Authors: Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Malicdan MCV; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Wang JA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Pri-Chen H; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hess RA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Fischer R; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Merideth MA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Gochuico BR; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Source: Human mutation [Hum Mutat] 2020 Mar; Vol. 41 (3), pp. 543-580. Date of Electronic Publication: 2020 Jan 23.
Publication Type: Journal Article; Research Support, N.I.H., Intramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hermansky-Pudlak syndrome: Mutation update.
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  Data: <searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Wang+JA%22">Wang JA</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Pri-Chen+H%22">Pri-Chen H</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Hess+RA%22">Hess RA</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Fischer+R%22">Fischer R</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22O'Brien+KJ%22">O'Brien KJ</searchLink>; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Merideth+MA%22">Merideth MA</searchLink>; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Gochuico+BR%22">Gochuico BR</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Mar; Vol. 41 (3), pp. 543-580. <i>Date of Electronic Publication: </i>2020 Jan 23.
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  Data: Journal Article; Research Support, N.I.H., Intramural
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1002/humu.23968
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              Text: 2020 Mar
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