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Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
Urbizu, Aintzane; Garrett, Melanie E; Soldano, Karen; Drechsel, Oliver; Loth, Dorothy; Marcé-Grau, Anna; Mestres I Soler, Olga; Poca, Maria A; Ossowski, Stephan; Macaya, Alfons; Loth, Francis; Labuda, Rick; Ashley-Koch, Allison.
Afiliación
  • Urbizu A; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America.
  • Garrett ME; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Soldano K; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America.
  • Drechsel O; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America.
  • Loth D; Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Marcé-Grau A; Universitat Pompeu Fabra, Barcelona, Spain.
  • Mestres I Soler O; Department of Psychology, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America.
  • Poca MA; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Ossowski S; Neurotraumatology and Neurosurgery Research Unit, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Macaya A; Neurotraumatology and Neurosurgery Research Unit, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Loth F; Department of Neurosurgery, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Labuda R; Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Ashley-Koch A; Universitat Pompeu Fabra, Barcelona, Spain.
PLoS One ; 16(5): e0251289, 2021.
Article en En | MEDLINE | ID: mdl-33974636
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Malformación de Arnold-Chiari / Colágeno Tipo I / Colágeno Tipo VI / Colágeno Tipo VII Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Malformación de Arnold-Chiari / Colágeno Tipo I / Colágeno Tipo VI / Colágeno Tipo VII Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos