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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854226/ https://www.ncbi.nlm.nih.gov/pubmed/31772763 http://dx.doi.org/10.1155/2019/2851380 |