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Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India
BACKGROUND: Visual system homeobox gene (VSX1) plays a major role in the early development of craniofacial and ocular tissues including cone opsin gene in the human retina. To date, few disease-causing mutations of VSX1 have been linked to familial and sporadic keratoconus (KC) in humans. In this st...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630895/ https://www.ncbi.nlm.nih.gov/pubmed/25963163 http://dx.doi.org/10.1186/s12881-015-0178-x |