Your browser doesn't support javascript.
loading
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov, Janice A; Uyan, Özgün; McKenna-Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmuller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H.
Afiliação
  • Dominov JA; Department of Neurology University of Massachusetts Medical School Worcester Massachusetts.
  • Uyan Ö; Department of Neurology University of Massachusetts Medical School Worcester Massachusetts.
  • McKenna-Yasek D; Department of Neurology University of Massachusetts Medical School Worcester Massachusetts.
  • Nallamilli BRR; Department of Human Genetics Emory University School of Medicine Atlanta Georgia.
  • Kergourlay V; Present address: Perkin Elmer Genomics Waltham Massachusetts.
  • Bartoli M; Marseille Medical Genetics - Translational Neuromyology Aix-Marseille Univ INSERM MMG Marseille France.
  • Levy N; Marseille Medical Genetics - Translational Neuromyology Aix-Marseille Univ INSERM MMG Marseille France.
  • Hudson J; Marseille Medical Genetics - Translational Neuromyology Aix-Marseille Univ INSERM MMG Marseille France.
  • Evangelista T; Département de Génétique Médicale APHM Hôpital Timone Enfants Marseille France.
  • Lochmuller H; Northern Molecular Genetics Service Newcastle upon Tyne United Kingdom.
  • Krahn M; Newcastle University John Walton Centre for Muscular Dystrophy Research MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine Newcastle upon Tyne United Kingdom.
  • Rufibach L; Newcastle University John Walton Centre for Muscular Dystrophy Research MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine Newcastle upon Tyne United Kingdom.
  • Hegde M; Department of Neuropediatrics and Muscle Disorders Faculty of Medicine Medical Center-University of Freiburg Freiburg Germany.
  • Brown RH; Centro Nacional de Análisis Genómico (CNAG-CRG) Center for Genomic Regulation Barcelona Institute of Science and Technology (BIST) Barcelona Catalonia Spain.
Ann Clin Transl Neurol ; 6(4): 642-654, 2019 Apr.
Article em En | MEDLINE | ID: mdl-31019989
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article