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The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
PURPOSE: To report the clinical and molecular features of a distinct form of transforming growth factor-β-induced (TGFBI) gene-linked corneal dystrophy exhibiting a new granular corneal dystrophy type I (CDGG1) phenotype. METHODS: A complete ophthalmologic examination was performed in all individual...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025098/ https://www.ncbi.nlm.nih.gov/pubmed/21264234 |