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New disease loci
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 Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Sarah Hull UniversityCollege London, Instituteof Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Ronald Roepman Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud 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 Netherlands Radboud 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 Netherlands Donders 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 Netherlands Donders 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 Netherlands Radboud 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 Netherlands Radboud 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 Netherlands Donders 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 Kingdom Moorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Erwin van Wijk Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Andrew R Webster UniversityCollege London, Instituteof Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom PubMed articlesGoogle scholar articles
  • Lonneke Haer-Wigman Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Donders 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
Journal of Medical Genetics 2017;54:624-632.

Publication history

  • Received July 29, 2016
  • Revised February 2, 2017
  • Accepted February 27, 2017
  • First published April 25, 2017.
Online issue publication 
August 22, 2017

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/