A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.

Markoff, A; Bogdanova, N; Uhlig, CE; Groppe, M; Horst, J; Kennerknecht, I

Abstract:

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. The identified molecular defect cosegregates with the disease among affected memb...

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APA Style

Markoff, A., Bogdanova, N., Uhlig, C. E., Groppe, M., Horst, J., & Kennerknecht, I. (2006). A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Molecular Vision, 12, 1473–1476.

MLA Style

Markoff, A., et al. “A Novel TACSTD2 Gene Mutation in a Turkish Family with a Gelatinous Drop-like Corneal Dystrophy.” Molecular Vision, vol. 12, 2006, pp. 1473–76.

Chicago Style

Markoff, A, N Bogdanova, CE Uhlig, M Groppe, J Horst, and I Kennerknecht. 2006. “A Novel TACSTD2 Gene Mutation in a Turkish Family with a Gelatinous Drop-like Corneal Dystrophy.” Molecular Vision 12: 1473–76.
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