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Clinical science
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

Authors

  • Laura Bryant Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Olga Lozynska Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Anson Marsh Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Tyler E Papp Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Lucas van Gorder Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Leona W Serrano Department of Ophthalmology and CAROT, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Xiaowu Gai Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, California, USAKeck School of Medicine, University of Southern California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Albert M Maguire Department of Ophthalmology and CAROT, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Tomas S Aleman Department of Ophthalmology and CAROT, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Jean Bennett Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jean Bennett, Center for Advanced Retinal and Ocular Therapeutics (CAROT), Philadelphia, PA 19104, USA; jebennet{at}pennmedicine.upenn.edu; Dr Tomas S Aleman, Center for Advanced Retinal and Ocular Therapeutics (CAROT), Philadelphia, PA 19104, USA; aleman{at}pennmedicine.upenn.edu
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Citation

Bryant L, Lozynska O, Marsh A, et al
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report
British Journal of Ophthalmology 2019;103:761-767.

Publication history

  • Received December 20, 2017
  • Revised May 17, 2018
  • Accepted June 22, 2018
  • First published July 20, 2018.
Online issue publication 
January 20, 2023

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/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, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.