The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus

PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation. METHODS: Enrichment of the portion of chromosome 20 containin...

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Detalles Bibliográficos
Autores principales: Lai, Isabella N., Yellore, Vivek S., Rayner, Sylvia A., D’Silva, Nerissa C., Nguyen, Catherine K., Aldave, Anthony J.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012649/
https://www.ncbi.nlm.nih.gov/pubmed/21203404

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