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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson, Bertrand; Honda, Yoshitaka; Ajiro, Masahiko; Bustamante, Jacinta; Bendavid, Matthieu; Gennery, Andrew R; Kawasaki, Yuri; Ichishima, Jose; Osawa, Mitsujiro; Nihira, Hiroshi; Shiba, Takeshi; Tanaka, Takayuki; Chrabieh, Maya; Bigio, Benedetta; Hur, Hong; Itan, Yuval; Liang, Yupu; Okada, Satoshi; Izawa, Kazushi; Nishikomori, Ryuta; Ohara, Osamu; Heike, Toshio; Abel, Laurent; Puel, Anne; Saito, Megumu K; Casanova, Jean-Laurent; Hagiwara, Masatoshi; Yasumi, Takahiro.
Affiliation
  • Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Honda Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Ajiro M; Paris Descartes University, Imagine Institute, Paris, France.
  • Bustamante J; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Bendavid M; Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Gennery AR; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Kawasaki Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Ichishima J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Osawa M; Paris Descartes University, Imagine Institute, Paris, France.
  • Nihira H; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Shiba T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Tanaka T; Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
  • Chrabieh M; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
  • Bigio B; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
  • Hur H; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
  • Itan Y; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Liang Y; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Okada S; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Izawa K; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Nishikomori R; Paris Descartes University, Imagine Institute, Paris, France.
  • Ohara O; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Heike T; Center for Clinical and Translational Science, The Rockefeller University, New York, New York, USA.
  • Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Puel A; The Charles Bronfman Institute for Personalized Medicine, and.
  • Saito MK; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Casanova JL; Center for Clinical and Translational Science, The Rockefeller University, New York, New York, USA.
  • Hagiwara M; Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, Japan.
  • Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
J Clin Invest ; 129(2): 583-597, 2019 02 01.
Article in En | MEDLINE | ID: mdl-30422821
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Incontinentia Pigmenti / Ectodermal Dysplasia / Introns / Frameshift Mutation / I-kappa B Kinase Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Clin Invest Year: 2019 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Incontinentia Pigmenti / Ectodermal Dysplasia / Introns / Frameshift Mutation / I-kappa B Kinase Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Clin Invest Year: 2019 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos