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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Rapaport, Franck; Boisson, Bertrand; Gregor, Anne; Béziat, Vivien; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Jouanguy, Emmanuelle; Puel, Anne; Rosain, Jérémie; Zhang, Qian; Zhang, Shen-Ying; Gleeson, Joseph G; Quintana-Murci, Lluis; Casanova, Jean-Laurent; Abel, Laurent; Patin, Etienne.
Affiliation
  • Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; casanova@rockefeller.edu frapaport@rockefeller.edu.
  • Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Gregor A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Béziat V; University of Paris, Imagine Institute, 75015 Paris, France.
  • Boisson-Dupuis S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Puel A; University of Paris, Imagine Institute, 75015 Paris, France.
  • Rosain J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Zhang SY; University of Paris, Imagine Institute, 75015 Paris, France.
  • Gleeson JG; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Quintana-Murci L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Casanova JL; University of Paris, Imagine Institute, 75015 Paris, France.
  • Abel L; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
  • Patin E; 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 ; 118(3)2021 01 19.
Article in En | MEDLINE | ID: mdl-33408250
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Full text: 1 Database: MEDLINE Main subject: Selection, Genetic / Immunity / Metabolism, Inborn Errors Type of study: Prognostic_studies Limits: Humans Language: En Year: 2021 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Selection, Genetic / Immunity / Metabolism, Inborn Errors Type of study: Prognostic_studies Limits: Humans Language: En Year: 2021 Type: Article