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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...
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. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2007
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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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