Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

PURPOSE: To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. METHODS: Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individuals. Identified variants were f...

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Detalles Bibliográficos
Autores principales: Lin, Benjamin R., Le, Derek J., Chen, Yabin, Wang, Qiwei, Chung, D. Doug, Frausto, Ricardo F., Croasdale, Christopher, Yee, Richard W., Hejtmancik, Fielding J., Aldave, Anthony J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911149/
https://www.ncbi.nlm.nih.gov/pubmed/27309958
http://dx.doi.org/10.1371/journal.pone.0157418

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