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Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.
de Boer, Martin; van Leeuwen, Karin; Geissler, Judy; Belohradsky, Bernd H; Kuijpers, Taco W; Roos, Dirk.
  • de Boer M; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van Leeuwen K; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Geissler J; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Belohradsky BH; Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Munich, Germany.
  • Kuijpers TW; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Emma Children's Hospital, Department of Pediatric Hematology, Immunology and Infectious Diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Roos D; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: d.roos@sanquin.nl.
Blood Cells Mol Dis ; 66: 50-57, 2017 07.
Article en En | MEDLINE | ID: mdl-28886419
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme del ARN / NADPH Oxidasa 2 / Enfermedad Granulomatosa Crónica / Mutación Límite: Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme del ARN / NADPH Oxidasa 2 / Enfermedad Granulomatosa Crónica / Mutación Límite: Humans / Male Idioma: En Año: 2017 Tipo del documento: Article