Cargando…
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...
Autores principales: | Romero, Pablo, Moraga, Mauricio, Herrera, Luisa |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927433/ https://www.ncbi.nlm.nih.gov/pubmed/20806046 |
Ejemplares similares
-
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene
por: Romero, Pablo, et al.
Publicado: (2008) -
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families
por: Liu, Zhe, et al.
Publicado: (2008) -
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies
por: Yamada, Naoyuki, et al.
Publicado: (2009) -
Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair
por: Kitamoto, Kohdai, et al.
Publicado: (2020) -
Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice
por: Bustamante, Mauro, et al.
Publicado: (2008)