Article info

Download PDFPDF
Original research
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

Authors

  • Maria Tarilonte Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Patricia Ramos Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Jennifer Moya Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Guilermo Fernandez-Sanz Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, SpainDepartment of Ophthalmology, Clínica Universidad de Navarra, Madrid, Spain PubMed articlesGoogle scholar articles
  • Fiona Blanco-Kelly Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Saoud Tahsin Swafiri Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Cristina Villaverde Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Raquel Romero Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Alejandra Tamayo Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Blanca Gener Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, SpainDepartment of Genetics, Cruces University Hospital, BioCruces Health Research Institute, Barakaldo, Spain PubMed articlesGoogle scholar articles
  • Patrick Calvas Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, FranceINSERM U1056, Université Toulouse III, Toulouse, France PubMed articlesGoogle scholar articles
  • Carmen Ayuso Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Marta Corton Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Marta Corton, Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital, Madrid 28040, Spain; mcorton{at}fjd.es
View Full Text

Citation

Tarilonte M, Ramos P, Moya J, et al
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

Publication history

  • Received February 20, 2020
  • Revised January 22, 2021
  • Accepted February 14, 2021
  • First published March 29, 2021.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.