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Open Access
Peer-reviewed
Research Article
A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo
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Anthony Antonellis ,
Contributed equally to this work with: Anthony Antonellis, Megan Y. Dennis
Affiliations Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America, Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America
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Megan Y. Dennis ,
Contributed equally to this work with: Anthony Antonellis, Megan Y. Dennis
Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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Grzegorz Burzynski,
Affiliation McKusick–Nathans Institute of Genetic Medicine and Department of Molecular and Comparative Pathobiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Jimmy Huynh,
Affiliation McKusick–Nathans Institute of Genetic Medicine and Department of Molecular and Comparative Pathobiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Valerie Maduro,
Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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Chani J. Hodonsky,
Affiliation Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America
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Mehrdad Khajavi,
Affiliation Department of Molecular and Human Genetics, Houston, Texas, United States of America
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Kinga Szigeti,
Affiliations Department of Molecular and Human Genetics, Houston, Texas, United States of America, Department of Neurology, Houston, Texas, United States of America
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Sandeep Mukkamala,
Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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Seneca L. Bessling,
Affiliation McKusick–Nathans Institute of Genetic Medicine and Department of Molecular and Comparative Pathobiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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NISC Comparative Sequencing Program,
Affiliation NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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William J. Pavan,
Affiliation Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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Andrew S. McCallion,
Affiliation McKusick–Nathans Institute of Genetic Medicine and Department of Molecular and Comparative Pathobiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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James R. Lupski,
Affiliations Department of Molecular and Human Genetics, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America
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Eric D. Green
* E-mail: egreen@nhgri.nih.gov
Affiliations Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo
- Anthony Antonellis,
- Megan Y. Dennis,
- Grzegorz Burzynski,
- Jimmy Huynh,
- Valerie Maduro,
- Chani J. Hodonsky,
- Mehrdad Khajavi,
- Kinga Szigeti,
- Sandeep Mukkamala,
- Seneca L. Bessling
- Published: December 16, 2010
- https://doi.org/10.1371/journal.pone.0014346