首页> PloS one> Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

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第一作者： Aintzane,Urbizu

第一单位： Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America.;Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.

作者： Aintzane,Urbizu ^[1] ; Melanie E,Garrett ^[2] ; Karen,Soldano ^[2] ; Oliver,Drechsel ^[3] ; Dorothy,Loth ^[4] ; Anna,Marcé-Grau ^[5] ; Olga,Mestres I Soler ^[6] ; Maria A,Poca ^[7] ; Stephan,Ossowski ^[3] ; Alfons,Macaya ^[5] ; Francis,Loth ^[8] ; Rick,Labuda ^[9] ; Allison,Ashley-Koch ^[2]

作者单位： Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America.;Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain. ^[1] Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America. ^[2] Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.;Universitat Pompeu Fabra, Barcelona, Spain. ^[3] Department of Psychology, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America. ^[4] Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain. ^[5] Neurotraumatology and Neurosurgery Research Unit, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[6] Neurotraumatology and Neurosurgery Research Unit, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.;Department of Neurosurgery, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[7] Department of Biomedical Engineering, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America.;Department of Mechanical Engineering, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America. ^[8] Conquer Chiari, Wexford, PA, United States of America. ^[9]