Your browser doesn't support javascript.
loading
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Jedlicková, Ivana; Pristoupilová, Anna; Nosková, Lenka; Majer, Filip; Stránecký, Viktor; Hartmannová, Hana; Hodanová, Katerina; Treslová, Helena; Hýblová, Michaela; Solár, Peter; Minárik, Gabriel; Giertlová, Mária; Kmoch, Stanislav.
Afiliación
  • Jedlicková I; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Pristoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hodanová K; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Treslová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hýblová M; Department of Clinical Genetics, Medirex A.S., Kosice, Slovakia.
  • Solár P; Department of Medical Biology, Faculty of Medicine, P.J. Safarik University, Kosice, Slovakia.
  • Minárik G; Department of Clinical Genetics, Medirex A.S., Kosice, Slovakia.
  • Giertlová M; Department of Clinical Genetics, Medirex A.S., Kosice, Slovakia.
  • Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Mol Genet Genomic Med ; 8(7): e1238, 2020 07.
Article en En | MEDLINE | ID: mdl-32337852
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Pruebas Genéticas / Eliminación de Gen / Proteína 1 para la Supervivencia de la Neurona Motora Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Pruebas Genéticas / Eliminación de Gen / Proteína 1 para la Supervivencia de la Neurona Motora Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos