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Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

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Bibliographic Details
Title: Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Authors: Martin-Merida I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Sanchez-Alcudia R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Fernandez-San Jose P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Blanco-Kelly F; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Perez-Carro R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Rodriguez-Jacy da Silva L; Universidade de Mogi das Cruzes, São Paulo, Brazil., Almoguera B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Garcia-Sandoval B; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Lopez-Molina MI; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Carballo M; Molecular Genetics Unit, Hospital de Terrassa, Terrassa, Barcelona, Spain., Corton M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 Feb 01; Vol. 58 (2), pp. 1045-1053.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-5783
DOI:10.1167/iovs.16-20515