Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy

PURPOSE: To report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). METHODS: Slit-lamp examination was performed on the probands and available family members to identify characteristi...

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Détails bibliographiques
Publié dans:Mol Vis
Auteurs principaux: Chen, Judy L., Lin, Benjamin R., Gee, Katherine M., Gee, Jessica A., Chung, Duk-Won D., Frausto, Ricardo F., Deng, Sophie X., Aldave, Anthony J.
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4704769/
https://ncbi.nlm.nih.gov/pubmed/26788030
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