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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...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genet
主要な著者: Shetty, Rohit, Nuijts, Rudy M.M.A., Nanaiah, Soumya Ganesh, Anandula, Venkata Ramana, Ghosh, Arkasubhra, Jayadev, Chaitra, Pahuja, Natasha, Kumaramanickavel, Govindasamy, Nallathambi, Jeyabalan
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630895/
https://ncbi.nlm.nih.gov/pubmed/25963163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0178-x
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