Hermansky-Pudlak syndrome: Mutation update.
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| Title: | Hermansky-Pudlak syndrome: Mutation update. |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.23968 |
