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1 |
Material Type: Artigo
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisWatkin, 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 KNature genetics, 2015-06, Vol.47 (6), p.654-660 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genomeRamocki, Melissa B ; Lupski, James R ; Carvalho, Claudia M B ; Pehlivan, Davut ; Franco, Luis M ; Gonzaga-Jauregui, Claudia ; Fang, Ping ; McCall, Alanna ; Pivnick, Eniko Karman ; Hines-Dowell, Stacy ; Seaver, Laurie H ; Friehling, Linda ; Lee, Sansan ; Smith, Rosemarie ; del Gaudio, Daniela ; Withers, Marjorie ; Liu, Pengfei ; Cheung, Sau Wai ; Belmont, John W ; Zoghbi, Huda Y ; Hastings, P JNature genetics, 2011-10, Vol.43 (11), p.1074-1081 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritisWatkin, Levi B. ; Jessen, Birthe ; Wiszniewski, Wojciech ; Vece, Timothy ; Jan, Max ; Sha, Youbao ; Thamsen, Maike ; Santos-Cortez, Regie L. P. ; Lee, Kwanghyuk ; Gambin, Tomasz ; Forbes, Lisa ; Law, Christopher S. ; Stray-Petersen, Asbjørg ; Cheng, Mickie H. ; Mace, Emily M. ; Anderson, Mark S. ; Liu, Dongfang ; Tang, Ling Fung ; Nicholas, Sarah K. ; Nahmod, Karen ; Makedonas, George ; Canter, Debra ; 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.Nature genetics, 2015-04, Vol.47 (6), p.654-660 [Periódico revisado por pares]Texto completo disponível |
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4 |
Material Type: Artigo
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisWatkin, Levi B ; Jessen, Birthe ; Wiszniewski, Wojciech ; Vece, Timothy J ; Jan, Max ; Sha, Youbao ; Thamsen, Maike ; Santos-Cortez, Regie LP ; 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 KNature Genetics, 2015-06, Vol.47 (6), p.654-660eScholarship, University of CaliforniaSem texto completo |