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...

Full description

Saved in:
Bibliographic Details
Main Authors: Qinghong Lin, Lin Zheng, Zhengwei Shen, Liming Jie
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2019/2851380
Tags: Add Tag
No Tags, Be the first to tag this record!