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Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain, Myriam; Thauvin-Robinet, Christel; Vial, Yoann; Coutant, Sophie; Drunat, Séverine; Urtizberea, Jon Andoni; Rolland, Anne; Jacquin-Piques, Agnès; Fehrenbach, Séverine; Nicolas, Gaël; Lecoquierre, François; Saugier-Veber, Pascale.
Afiliação
  • Vezain M; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.
  • Thauvin-Robinet C; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.
  • Vial Y; INSERM UMR1231 GAD-Génétique des Anomalies du Développement, Bourgogne Franche-Comté University, F-21000 , Dijon, France.
  • Coutant S; Genetics Center, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, F-21000, Dijon, France.
  • Drunat S; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.
  • Urtizberea JA; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.
  • Rolland A; Genetics Department, AP-HP, Robert-Debré University Hospital, 48 boulevard Sérurier, 75019 , Paris, France.
  • Jacquin-Piques A; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.
  • Fehrenbach S; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.
  • Nicolas G; INSERM UMR 1141, PROTECT, Paris University, F-75019, Paris, France.
  • Lecoquierre F; Genetics Department, AP-HP, Robert-Debré University Hospital, F-75019, Paris, France.
  • Saugier-Veber P; Myology Institute, AP-HP Pitié-Salpêtrière University Hospital, F-75013, Paris, France.
Hum Genet ; 142(1): 125-138, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36138164
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Retroelementos Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Retroelementos Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2023 Tipo de documento: Article