Article
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.
Investigative ophthalmology & visual science - 1 Dec 2009
Riazuddin S Amer, Eghrari Allen O, Al-Saif Amr, Davey Lisa, Meadows Danielle N, Katsanis Nicholas, Gottsch John D
Abstract excerpt
PURPOSE: To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci. METHODS: Seventeen individuals in a large family were examined by slit lamp biomicroscopy. Blood samples were collected, DNA was extracted, and a genome-wide scan was performed with a microarray SNP chip....
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