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A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Marx, David; Dupuis, Arnaud; Eckly, Anita; Molitor, Anne; Olagne, Jérôme; Touchard, Guy; Kaaki, Sihem; Ory, Cécile; Faller, Anne-Laure; Gérard, Bénédicte; Cotter, Melanie; Westerberg, Lisa; Keszei, Marton; Moulin, Bruno; Gachet, Christian; Caillard, Sophie; Bahram, Seiamak; Carapito, Raphaël.
Affiliation
  • Marx D; Department of Nephrology and Kidney Transplantation, University Hospital of Strasbourg, Strasbourg, France.
  • Dupuis A; Laboratoire d'ImmunoRhumatologie Moléculaire, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitai
  • Eckly A; Laboratoire de Spectrométrie de Masse BioOrganique, Université de Strasbourg, Centre National de la Recherche Scientifique (CNRS), Institut Pluridisciplinaire Hubert Curien (IPHC), UMR 7178, Strasbourg, France.
  • Molitor A; Etablissement Français du Sang (EFS) Grand Est, Institut National de la Santé et la Recherche Médicale (INSERM) BPPS UMR_S 1255, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Olagne J; Etablissement Français du Sang (EFS) Grand Est, Institut National de la Santé et la Recherche Médicale (INSERM) BPPS UMR_S 1255, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Touchard G; Laboratoire d'ImmunoRhumatologie Moléculaire, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitai
  • Kaaki S; Department of Nephrology and Kidney Transplantation, University Hospital of Strasbourg, Strasbourg, France.
  • Ory C; Department of Nephrology and Transplantation, and.
  • Faller AL; Department of Pathology, University of Poitiers, Poitiers, France.
  • Gérard B; Department of Nephrology and Transplantation, and.
  • Cotter M; Department of Pathology, University of Poitiers, Poitiers, France.
  • Westerberg L; Department of Nephrology and Transplantation, and.
  • Keszei M; Department of Pathology, University of Poitiers, Poitiers, France.
  • Moulin B; Department of Nephrology, Clinique Sainte-Anne, Strasbourg, France.
  • Gachet C; Genetic Diagnostic Laboratory, University Hospital of Strasbourg, Strasbourg, France.
  • Caillard S; Department of Paediatric Haematology, Temple Street Children's University Hospital, Dublin, Republic of Ireland.
  • Bahram S; Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden; and.
  • Carapito R; Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden; and.
Blood Adv ; 6(18): 5279-5284, 2022 09 27.
Article in En | MEDLINE | ID: mdl-35404999
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wiskott-Aldrich Syndrome / Renal Insufficiency / Neutropenia Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Blood Adv Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wiskott-Aldrich Syndrome / Renal Insufficiency / Neutropenia Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Blood Adv Year: 2022 Document type: Article Affiliation country: Country of publication: