Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

• Joshi Stephen ,

  Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

  Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Tadafumi Yokoyama ,

  Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

  Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Nathanial J. Tolman ,

  Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

  Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America

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• Kevin J. O’Brien,

  Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Elena-Raluca Nicoli,

  Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America

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• Brian P. Brooks,

  Affiliation Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Laryssa Huryn,

  Affiliation Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Steven A. Titus,

  Affiliation Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, Maryland, United States of America

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• David R. Adams,

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Dong Chen,

  Affiliation Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, United States of America

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• William A. Gahl,

  Affiliations Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Bernadette R. Gochuico ,

  * E-mail: gochuicb@mail.nih.gov

  ¶‡ These authors also contributed equally to this work.

  Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• May Christine V. Malicdan

  ¶‡ These authors also contributed equally to this work.

  Affiliations NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  http://orcid.org/0000-0003-1697-6959

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