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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...

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Detalles Bibliográficos
Autores principales: Zhu, Yanan, Shentu, Xingchao, Wang, Wei
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025098/
https://www.ncbi.nlm.nih.gov/pubmed/21264234