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Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Reurink, Janine; Oostrik, Jaap; Aben, Marco; Ramos, Mariana Guimarães; van Berkel, Emma; Oldak, Monika; van Wijk, Erwin; Kremer, Hannie; Roosing, Susanne; Cremers, Frans P M.
Afiliação
  • Reurink J; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Oostrik J; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6525 AJ Nijmegen, The Netherlands.
  • Aben M; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Ramos MG; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • van Berkel E; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Oldak M; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • van Wijk E; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.
  • Kremer H; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6525 AJ Nijmegen, The Netherlands.
  • Roosing S; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Int J Mol Sci ; 23(21)2022 Nov 01.
Article em En | MEDLINE | ID: mdl-36362125

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Síndromes de Usher Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Síndromes de Usher Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article