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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke.
Afiliação
  • Nguyen TT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hull S; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roepman R; UniversityCollege London, Instituteof Ophthalmology, London, United Kingdom.
  • van den Born LI; Moorfields Eye Hospital, London, United Kingdom.
  • Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Vrieze E; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hetterschijt L; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Letteboer SJF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Beersum SEC; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Blokland EA; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van der Zwaag PA; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
  • Arno G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Wijk E; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Webster AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haer-Wigman L; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
J Med Genet ; 54(9): 624-632, 2017 09.
Article em En | MEDLINE | ID: mdl-28442542
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Mutação de Sentido Incorreto / Proteínas Adaptadoras de Transdução de Sinal Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Mutação de Sentido Incorreto / Proteínas Adaptadoras de Transdução de Sinal Idioma: En Ano de publicação: 2017 Tipo de documento: Article