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Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang, Peng; Chaldebas, Matthieu; Ogishi, Masato; Al Qureshah, Fahd; Ponsin, Khoren; Feng, Yi; Rinchai, Darawan; Milisavljevic, Baptiste; Han, Ji Eun; Moncada-Vélez, Marcela; Keles, Sevgi; Schröder, Bernd; Stenson, Peter D; Cooper, David N; Cobat, Aurélie; Boisson, Bertrand; Zhang, Qian; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent.
  • Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Al Qureshah F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Ponsin K; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Feng Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Han JE; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Moncada-Vélez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Keles S; Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Meram Medical Faculty, Konya 42080, Turkey.
  • Schröder B; Institute of Physiological Chemistry, Technische Universität Dresden, Dresden 01307, Germany.
  • Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.
  • Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.
  • Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris 75015, France.
  • Boisson B; Paris Cité University, Imagine Institute, Paris 75015, France.
  • Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris 75015, France.
  • Abel L; Paris Cité University, Imagine Institute, Paris 75015, France.
  • Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Proc Natl Acad Sci U S A ; 120(46): e2314225120, 2023 Nov 14.
Article en En | MEDLINE | ID: mdl-37931111

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Sitios de Empalme de ARN Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Sitios de Empalme de ARN Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article