Article
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.
Molecular vision - 2 Dec 2006
Markoff Arseni, Bogdanova Nadia, Uhlig Constantin E, Groppe Markus, Horst Jurgen, Kennerknecht Ingo
Abstract excerpt
PURPOSE: To identify the molecular defect causing gelatinous drop-like corneal dystrophy in a Turkish family and assign affected and carriership status. METHODS: Visual activity of affected family members was measured using Snellen optotypes. To identify the molecular defect, mutation analysis of the TACSTD2 (M1S1) gene was performed. RESULTS: We report on a new TACSTD2 mutation, c.653delA, in a Turkish family....
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