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Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Berntsson, Shala Ghaderi; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter; van Duyvenvoorde, Hermine A; Richel-van Assenbergh, Cindy; van der Klift, Heleen M; Casar-Borota, Olivera; Frykholm, Carina; Landtblom, Anne-Marie.
Afiliação
  • Berntsson SG; Department of Medical Sciences, Neurology, Uppsala University, Uppsala, Sweden.
  • Matsson H; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Kristoffersson A; Clinical Genetics, Rudbeck Laboratory, Uppsala University Hospital, Uppsala, Sweden.
  • Niemelä V; Department of Medical Sciences, Neurology, Uppsala University, Uppsala, Sweden.
  • van Duyvenvoorde HA; Department of Medical Sciences, Neurology, Uppsala University, Uppsala, Sweden.
  • Richel-van Assenbergh C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • van der Klift HM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Casar-Borota O; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Frykholm C; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Landtblom AM; Department of Clinical Pathology, Uppsala University Hospital, Uppsala, Sweden.
Front Genet ; 14: 1226766, 2023.
Article em En | MEDLINE | ID: mdl-37795243
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article