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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:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025098/ https://www.ncbi.nlm.nih.gov/pubmed/21264234

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