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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin, Levi B; Jessen, Birthe; Wiszniewski, Wojciech; Vece, Timothy J; Jan, Max; Sha, Youbao; Thamsen, Maike; Santos-Cortez, Regie L P; Lee, Kwanghyuk; Gambin, Tomasz; Forbes, Lisa R; Law, Christopher S; Stray-Pedersen, Asbjørg; Cheng, Mickie H; Mace, Emily M; Anderson, Mark S; Liu, Dongfang; Tang, Ling Fung; Nicholas, Sarah K; Nahmod, Karen; Makedonas, George; Canter, Debra L; Kwok, Pui-Yan; Hicks, John; Jones, Kirk D; Penney, Samantha; Jhangiani, Shalini N; Rosenblum, Michael D; Dell, Sharon D; Waterfield, Michael R; Papa, Feroz R; Muzny, Donna M; Zaitlen, Noah; Leal, Suzanne M; Gonzaga-Jauregui, Claudia; Boerwinkle, Eric; Eissa, N Tony; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Shum, Anthony K.
Afiliación
  • Watkin LB; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Jessen B; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Vece TJ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Jan M; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Sha Y; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Thamsen M; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Santos-Cortez RL; Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lee K; Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Forbes LR; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Law CS; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Stray-Pedersen A; 1] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA. [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Cheng MH; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Mace EM; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Anderson MS; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Liu D; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Tang LF; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
  • Nicholas SK; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Nahmod K; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Makedonas G; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Canter DL; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Kwok PY; 1] Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA. [2] Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.
  • Hicks J; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.
  • Jones KD; Department of Pathology, University of California, San Francisco, San Francisco, California, USA.
  • Penney S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Rosenblum MD; Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.
  • Dell SD; Division of Respiratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Waterfield MR; Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.
  • Papa FR; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Zaitlen N; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Leal SM; Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Boerwinkle E; 1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. [2] Human Genetics Center and Institute of Molecular Medicine, University of Texas-Houston Health Science Center, Houston, Texas, USA.
  • Eissa NT; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [3] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Orange JS; 1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. [2] Texas Children's Hospital Center for Human Immuno-Biology, Houston, Texas, USA.
  • Shum AK; 1] Department of Medicine, University of California, San Francisco, San Francisco, California, USA. [2] Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
Nat Genet ; 47(6): 654-60, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25894502
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artritis / Enfermedades Autoinmunes / Enfermedades Pulmonares Intersticiales / Proteína Coatómero / Aparato de Golgi Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artritis / Enfermedades Autoinmunes / Enfermedades Pulmonares Intersticiales / Proteína Coatómero / Aparato de Golgi Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos