A new mutation (Leu569Arg) within Exon 13 of the TGFBI ( BIGH3) gene causes lattice corneal dystrophy type I

To describe an American family with lattice corneal dystrophy type I, which associates with a novel mutation, Leu569Arg, of the TGFBI ( BIGH3) gene. Experimental study. Genomic DNA was extracted from buccal epithelial cells of four affected members of an American family with lattice corneal dystroph...

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Veröffentlicht in:	American journal of ophthalmology 2003-11, Vol.136 (5), p.872-878
Hauptverfasser:	Warren, John F, Abbott, Richard L, Yoon, Michael K, Crawford, J.Brooks, Spencer, William H, Margolis, Todd P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Substitution Arginine - genetics Biological and medical sciences Child, Preschool Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Corneal Dystrophies, Hereditary - surgery Diseases of cornea, anterior segment and sclera DNA Mutational Analysis Exons - genetics Extracellular Matrix Proteins - genetics Female Humans Keratoplasty, Penetrating Leucine - genetics Male Medical sciences Ophthalmology Pedigree Point Mutation Polymerase Chain Reaction Recurrence Reoperation Sequence Analysis, DNA Transforming Growth Factor beta - genetics Visual Acuity
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