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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families
PURPOSE: A genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I). METHODS: The eyes of the patients were examined by slit lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from pe...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443752/ https://www.ncbi.nlm.nih.gov/pubmed/18615206 |