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Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Iyer, Chitra C; Corlett, Kaitlyn M; Massoni-Laporte, Aurélie; Duque, Sandra I; Madabusi, Narasimhan; Tisdale, Sarah; McGovern, Vicki L; Le, Thanh T; Zaworski, Phillip G; Arnold, W David; Pellizzoni, Livio; Burghes, Arthur H M.
Afiliação
  • Iyer CC; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Corlett KM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Massoni-Laporte A; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Duque SI; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Madabusi N; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Tisdale S; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.
  • McGovern VL; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
  • Le TT; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Zaworski PG; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Arnold WD; PharmOptima, LLC, Portage, MI, USA.
  • Pellizzoni L; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Burghes AHM; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.
Hum Mol Genet ; 27(19): 3404-3416, 2018 10 01.
Article em En | MEDLINE | ID: mdl-29982416
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Ribonucleoproteínas Nucleares Pequenas / Proteínas do Complexo SMN Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 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: Atrofia Muscular Espinal / Ribonucleoproteínas Nucleares Pequenas / Proteínas do Complexo SMN Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos