Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo; Cristina Méndez-Vidal; Nereida Bravo-Gil; Alicia Vela-Boza; Joaquin Dopazo; Salud Borrego; Guillermo Antiñolo

doi:10.1371/journal.pone.0116176

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Peer-reviewed

Research Article

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo,

Affiliations Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain
⨯
Cristina Méndez-Vidal,

Affiliations Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain
⨯
Nereida Bravo-Gil,

Affiliations Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain
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Alicia Vela-Boza,

Affiliation Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain
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Joaquin Dopazo,

Affiliations Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain, Department of Bioinformatics, Prince Felipe Research Centre (CIPF), Valencia, Spain, Functional Genomics Node (INB), Prince Felipe Research Centre (CIPF), Valencia, Spain
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Salud Borrego,

Affiliations Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain
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Guillermo Antiñolo

* E-mail: guillermo.antinolo.sspa@juntadeandalucia.es

Affiliations Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain, Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain
⨯

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo,
Cristina Méndez-Vidal,
Nereida Bravo-Gil,
Alicia Vela-Boza,
Joaquin Dopazo,
Salud Borrego,
Guillermo Antiñolo

Published: December 29, 2014
https://doi.org/10.1371/journal.pone.0116176

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Mutation detection
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Visual acuity
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Heterozygosity
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Retinitis pigmentosa
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Deletion mutation
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Human genetics
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Mutation
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