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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno, Corey; McGovern, Vicki L; Avenarius, Matthew R; Snyder, Pamela J; Prior, Thomas W; Nery, Flavia C; Muhtaseb, Abdurrahman; Roggenbuck, Jennifer S; Kissel, John T; Sansone, Valeria A; Siranosian, Jennifer J; Johnstone, Alec J; Nwe, Pann H; Zhang, Ren Z; Swoboda, Kathryn J; Burghes, Arthur H M.
Afiliação
  • Ruhno C; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA.
  • McGovern VL; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA.
  • Avenarius MR; Nationwide Children's Hospital, Columbus, OH, USA.
  • Snyder PJ; Department of Pathology, The Ohio State University, Columbus, OH, USA.
  • Prior TW; Department of Pathology, Case Western Reserve Medical Center, Cleveland, OH, USA.
  • Nery FC; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Muhtaseb A; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Roggenbuck JS; Department of Neurology, The Ohio State University, Columbus, OH, USA.
  • Kissel JT; Department of Neurology, The Ohio State University, Columbus, OH, USA.
  • Sansone VA; The NEMO Clinical Center, University of Milan, Milan, Italy.
  • Siranosian JJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Johnstone AJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Nwe PH; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Zhang RZ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA. burghes.1@osu.edu.
Hum Genet ; 138(3): 241-256, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30788592
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Atrofia Muscular Espinal / Deleção de Genes / Estudos de Associação Genética Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
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: Fenótipo / Atrofia Muscular Espinal / Deleção de Genes / Estudos de Associação Genética Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos