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  • A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

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Original article
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

Authors

  • Muhammad Ajmal Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Muhammad Imran Khan Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Kornelia Neveling Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Yar Muhammad Khan Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Chemistry, University of Science and Technology, Bannu, Pakistan PubMed articlesGoogle scholar articles
  • Maleeha Azam Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Nadia Khalida Waheed Department of Ophthalmology, Tufts University School of Medicine, Boston, USA PubMed articlesGoogle scholar articles
  • Christian P Hamel Department of Genetics, Institut National de la Santé et de la Recherche Médicale U, Université Paris Descartes-Sorbonne Paris Cité, Montpellier, France PubMed articlesGoogle scholar articles
  • Tamar Ben-Yosef Department of Genetics, The Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel PubMed articlesGoogle scholar articles
  • Elfride De Baere Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium PubMed articlesGoogle scholar articles
  • Robert K Koenekoop Department of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Canada PubMed articlesGoogle scholar articles
  • Rob W J Collin Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Raheel Qamar Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan PubMed articlesGoogle scholar articles
  • Frans P M Cremers Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Frans PM Cremers, Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, Nijmegen 6500 HB, The Netherlands; Frans.Cremers{at}radboudumc.nl
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Citation

Ajmal M, Khan MI, Neveling K, et al
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Journal of Medical Genetics 2014;51:444-448.

Publication history

  • Received February 3, 2014
  • Revised March 19, 2014
  • Accepted March 20, 2014
  • First published April 15, 2014.
Online issue publication 
April 27, 2016

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