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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Bibliografiska uppgifter
I publikationen:J Ophthalmol
Huvudupphovsmän: Lin, Qinghong, Zheng, Lin, Shen, Zhengwei, Jie, Liming
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi 2019
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6854226/
https://ncbi.nlm.nih.gov/pubmed/31772763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/2851380
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