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...

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Detalles Bibliográficos
Autores principales: Shetty, Rohit, Nuijts, Rudy M.M.A., Nanaiah, Soumya Ganesh, Anandula, Venkata Ramana, Ghosh, Arkasubhra, Jayadev, Chaitra, Pahuja, Natasha, Kumaramanickavel, Govindasamy, Nallathambi, Jeyabalan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
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

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