A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family
Objective. This study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family. Methods. In the present study, a three-generation KC family, which comprised 10 affected patients and nine unaffected individuals, was r...
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| Main Authors: | Qinghong Lin, Lin Zheng, Zhengwei Shen, Liming Jie |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2019/2851380 |
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