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AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine.
Afiliação
  • Wimmer K; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Schamschula E; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Wernstedt A; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Traunfellner P; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Amberger A; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Zschocke J; Institute of Human Genetics, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
  • Kroisel P; Diagnostic & Research Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
  • Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Messiaen L; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Hum Mutat ; 41(6): 1145-1156, 2020 06.
Article em En | MEDLINE | ID: mdl-32126153
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Splicing de RNA / Sítios de Splice de RNA / Neurofibromina 1 Limite: Adult / Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Splicing de RNA / Sítios de Splice de RNA / Neurofibromina 1 Limite: Adult / Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria