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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe, Leoni S; Hoffjan, Sabine; Janßen, Sören; Kneifel, Moritz; Krause, Karsten; Gerding, Wanda M; Döring, Kristina; Güttsches, Anne-Katrin; Roos, Andreas; Buena Atienza, Elena; Gross, Caspar; Lücke, Thomas; Nguyen, Hoa Huu Phuc; Vorgerd, Matthias; Köhler, Cornelia.
Afiliação
  • Erbe LS; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Janßen S; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.
  • Kneifel M; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Krause K; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Gerding WM; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Güttsches AK; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Roos A; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Buena Atienza E; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany.
  • Gross C; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.
  • Lücke T; NGS Competence Center Tübingen, 72076 Tübingen, Germany.
  • Nguyen HHP; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.
  • Vorgerd M; NGS Competence Center Tübingen, 72076 Tübingen, Germany.
  • Köhler C; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.
Int J Mol Sci ; 24(19)2023 Sep 28.
Article em En | MEDLINE | ID: mdl-37834164
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article