Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3)

PURPOSE: To describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean families with lattice corneal dystrophy type I (LCDI). METHODS: Snellen acuity tests, anterior segment slit lamp examinations, dilated...

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Detalles Bibliográficos
Autores principales: Romero, Pablo, Moraga, Mauricio, Herrera, Luisa
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927433/
https://www.ncbi.nlm.nih.gov/pubmed/20806046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927433/
https://www.ncbi.nlm.nih.gov/pubmed/20806046

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