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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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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Molecular vision
Volume:
12
Pages:
1473-1476
Publication date:
2006-01-01
EISSN:
1090-0535
URN:
uuid:2ee4cd84-1804-452c-b758-29efb2848325
Source identifiers:
241901
Local pid:
pubs:241901

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