Journal article
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.
- 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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Bibliographic Details
- Journal:
- Molecular vision
- Volume:
- 12
- Pages:
- 1473-1476
- Publication date:
- 2006-01-01
- EISSN:
-
1090-0535
- Source identifiers:
-
241901
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:241901
- UUID:
-
uuid:2ee4cd84-1804-452c-b758-29efb2848325
- Local pid:
- pubs:241901
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2006
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