Article
A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.
Investigative ophthalmology & visual science - 1 Nov 2001
Tasa G, Kals J, Muru K, Juronen E, Piirsoo A, Veromann S, Jänes S, Mikelsaar A V, Lang A
Abstract excerpt
PURPOSE: To identify the genetic defect in the M1S1 gene causing gelatinous droplike corneal dystrophy (GDLD) in an Estonian family. METHODS: DNA was extracted from members of a GDLD-affected family and control persons. Polymerase chain reaction followed by direct sequencing was used to detect mutations in the M1S1 gene. Sequencing results were confirmed with restriction analysis. RESULTS: Sequencing of the M1S1...
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