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FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Wyatt, Rebecca C; Olek, Sven; De Franco, Elisa; Samans, Bjoern; Patel, Kashyap; Houghton, Jayne; Walter, Steffi; Schulze, Janika; Bacchetta, Rosa; Hattersley, Andrew T; Flanagan, Sarah E; Johnson, Matthew B.
  • Wyatt RC; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
  • Olek S; Ivana Türbachova Laboratory of Epigenetics, Precision for Medicine GmbH, Berlin, Germany.
  • De Franco E; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
  • Samans B; Ivana Türbachova Laboratory of Epigenetics, Precision for Medicine GmbH, Berlin, Germany.
  • Patel K; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
  • Houghton J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Walter S; Research & Development, Epimune Diagnostics, Berlin, Germany.
  • Schulze J; Research & Development, Epimune Diagnostics, Berlin, Germany.
  • Bacchetta R; Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, USA.
  • Hattersley AT; Center for Definitive and Curative Medicine (CDCM), Stanford University, Stanford, USA.
  • Flanagan SE; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
  • Johnson MB; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
J Clin Immunol ; 43(3): 662-669, 2023 04.
Article en En | MEDLINE | ID: mdl-36600150
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Diabetes Mellitus Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Diabetes Mellitus Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article