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A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy

PURPOSE: To determine if a mutation within the coding region of the keratin 12 gene (KRT12) is responsible for a severe form of Meesmann's corneal dystrophy. METHODS: A family with clinically identified Meesmann's corneal dystrophy was recruited and studied. Electron microscopy was perform...

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Detalles Bibliográficos
Autores principales: Sullivan, Lori S., Baylin, Eric B., Font, Ramon, Daiger, Stephen P., Pepose, Jay S., Clinch, Thomas E., Nakamura, Hisashi, Zhao, Xinping C., Yee, Richard W.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774455/
https://www.ncbi.nlm.nih.gov/pubmed/17653038

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