Article
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.
Molecular vision - 1 Jan 2011
Niel-Butschi Florence, Kantelip Bernadette, Iwaszkiewicz Justyna, Zoete Vincent, Boimard Mathieu, Delpech Marc, Bourges Jean-Louis, Renard Gilles, D'Hermies François, Pisella Pierre-Jean, Hamel Christian, Delbosc Bernard, Valleix Sophie
Abstract excerpt
PURPOSE: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure. METHODS: Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an...
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