a rare myelin protein zero (mpz) variant alters enhancer activity in vitro and in vivo罕见的髓磷脂蛋白零(合成)变异改变增强活动在体外和体内.pdfVIP
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a rare myelin protein zero (mpz) variant alters enhancer activity in vitro and in vivo罕见的髓磷脂蛋白零(合成)变异改变增强活动在体外和体内
A Rare Myelin Protein Zero (MPZ) Variant Alters
Enhancer Activity In Vitro and In Vivo
1,2. 3. 4 4 3
Anthony Antonellis , Megan Y. Dennis , Grzegorz Burzynski , Jimmy Huynh , Valerie Maduro ,
1 5 5,6 3 4
Chani J. Hodonsky , Mehrdad Khajavi , Kinga Szigeti , Sandeep Mukkamala , Seneca L. Bessling , NISC
7 8 4 5,9,10
Comparative Sequencing Program , William J. Pavan , Andrew S. McCallion , James R. Lupski ,
Eric D. Green3,7*
1 Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America, 2 Department of Neurology, University of
Michigan Medical School, Ann Arbor, Michigan, United States of America, 3 Genome Technology Branch, National Human Genome Research Institute, National Institutes
of Health, Bethesda, Maryland, United States of America, 4 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, 5 Department of Molecular and Human Genetics, Houston, Texas, United
States of America, 6 Department of Neurology, Houston, Texas, United States of America, 7 NIH Intramural Sequencing Center (NISC), National Human Genome Research
Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 8 Genetic Disease Research Branch, National Human
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