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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Pluta, Natalie; von Moers, Arpad; Pechmann, Astrid; Stenzel, Werner; Goebel, Hans-Hilmar; Atlan, David; Wolf, Beat; Nanda, Indrajit; Zaum, Ann-Kathrin; Rost, Simone.
Afiliação
  • Pluta N; Department of Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
  • von Moers A; Department of Pediatrics and Neuropediatrics, DRK Kliniken Berlin, 14050 Berlin, Germany.
  • Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin, 10117 Berlin, Germany.
  • Goebel HH; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin, 10117 Berlin, Germany.
  • Atlan D; Phenosystems SA, 1807 Blonay, Switzerland.
  • Wolf B; iCoSys, University of Applied Sciences Western Switzerland, 1700 Fribourg, Switzerland.
  • Nanda I; Department of Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
  • Zaum AK; Department of Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
  • Rost S; Department of Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
Int J Mol Sci ; 24(17)2023 Sep 01.
Article em En | MEDLINE | ID: mdl-37686372
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça