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Original Article
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Authors

  • Thanh-Minh T Nguyen Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Sarah Hull UniversityCollege London, Instituteof Ophthalmology, London, United KingdomMoorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Ronald Roepman Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • L Ingeborgh van den Born The Rotterdam Eye Hospital, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Machteld M Oud Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Erik de Vrieze Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The NetherlandsDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Lisette Hetterschijt Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The NetherlandsDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Stef J F Letteboer Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Sylvia E C van Beersum Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Ellen A Blokland Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Helger G Yntema Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Frans P M Cremers Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Paul A van der Zwaag Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Gavin Arno UniversityCollege London, Instituteof Ophthalmology, London, United KingdomMoorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Erwin van Wijk Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The NetherlandsDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Andrew R Webster UniversityCollege London, Instituteof Ophthalmology, London, United KingdomMoorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Lonneke Haer-Wigman Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Lonneke Haer-Wigman, Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; lonneke.haer-wigman{at}radboudumc.nl
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Citation

Nguyen TT, Hull S, Roepman R, et al
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Publication history

  • Received 29 July 2016
  • Revised 2 February 2017
  • Accepted 27 February 2017
  • Published in print 24 June 2017.
  • Published first 25 April 2017.

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