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First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin, Jin-Huan; Tang, Xin-Ying; Boulling, Arnaud; Zou, Wen-Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlène; Deng, Shun-Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N; Li, Zhao-Shen; Férec, Claude; Liao, Zhuan; Chen, Jian-Min.
  • Lin JH; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Tang XY; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.
  • Boulling A; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
  • Zou WB; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.
  • Masson E; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
  • Fichou Y; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Raud L; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.
  • Le Tertre M; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
  • Deng SJ; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Berlivet I; CHU Brest, Service de Génétique, Brest, France.
  • Ka C; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Mort M; Laboratory of Excellence GR-Ex, Paris, France.
  • Hayden M; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Leman R; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Houdayer C; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.
  • Le Gac G; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
  • Cooper DN; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Li ZS; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
  • Férec C; CHU Brest, Service de Génétique, Brest, France.
  • Liao Z; Laboratory of Excellence GR-Ex, Paris, France.
  • Chen JM; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Hum Mutat ; 40(10): 1856-1873, 2019 10.
Article en En | MEDLINE | ID: mdl-31131953
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Secuencia de Bases / Regulación de la Expresión Génica / Empalme Alternativo / Sitios de Empalme de ARN Tipo de estudio: Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Secuencia de Bases / Regulación de la Expresión Génica / Empalme Alternativo / Sitios de Empalme de ARN Tipo de estudio: Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article