Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus

Posterior polymorphous corneal dystrophy 1 (PPCD1) is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequencing of protein-coding genes in the consensus regi...

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Detalles Bibliográficos
Autores principales: Le, Derek J., Chung, Duk-Won D., Frausto, Ricardo F., Kim, Michelle 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/PMC4927100/
https://www.ncbi.nlm.nih.gov/pubmed/27355326
http://dx.doi.org/10.1371/journal.pone.0158467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927100/
https://www.ncbi.nlm.nih.gov/pubmed/27355326
http://dx.doi.org/10.1371/journal.pone.0158467

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