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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

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Bibliographic Details
Title: Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
Authors: Tarilonte M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Ramos P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Moya J; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Fernandez-Sanz G; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.; Department of Ophthalmology, Clínica Universidad de Navarra, Madrid, Spain., Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Villaverde C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Romero R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain., Tamayo A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Gener B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetics, Cruces University Hospital, BioCruces Health Research Institute, Barakaldo, Spain., Calvas P; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.; INSERM U1056, Université Toulouse III, Toulouse, France., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain mcorton@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Source: Journal of medical genetics [J Med Genet] 2022 May; Vol. 59 (5), pp. 428-437. Date of Electronic Publication: 2021 Mar 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmedgenet-2020-106932