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Clinical science
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families

Authors

  • Marta de Castro-Miró Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Institut de Biomedicina (IBUB), Universitat de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Raul Tonda CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Universitat Pompeu Fabra (UPF), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Gemma Marfany Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Institut de Biomedicina (IBUB), Universitat de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Ricardo P Casaroli-Marano Department of Surgery, School of Medicine and Hospital Clínic de Barcelona (IDIBAPS), University of Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Roser Gonzàlez-Duarte Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Institut de Biomedicina (IBUB), Universitat de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Roser Gonzàlez-Duarte, Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Barcelona 08028, Spain; rgonzalez{at}ub.edu
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Citation

de Castro-Miró M, Tonda R, Marfany G, et al
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families
British Journal of Ophthalmology 2018;102:1378-1386.

Publication history

  • Received October 5, 2017
  • Revised December 20, 2017
  • Accepted December 30, 2017
  • First published January 24, 2018.
Online issue publication 
January 23, 2023

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.