Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

Rohit Shetty, Rudy M. M. A. Nuijts, Soumya Ganesh Nanaiah, Venkata Ramana Anandula, Arkasubhra Ghosh, Chaitra Jayadev, Natasha Pahuja, Govindasamy Kumaramanickavel, Jeyabalan Nallathambi

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
Original languageEnglish
Article number33
JournalBMC Medical Genetics
Volume16
DOIs
Publication statusPublished - 12 May 2015

Keywords

  • Visual system homeobox gene (VSX1)
  • Familial keratoconus
  • Mutation screening
  • CVC (Chx10/Vsx-1 and ceh-10) domain
  • In sillico analysis
  • Missense mutation
  • Haplotype analysis

Cite this

Shetty, R., Nuijts, R. M. M. A., Nanaiah, S. G., Anandula, V. R., Ghosh, A., Jayadev, C., Pahuja, N., Kumaramanickavel, G., & Nallathambi, J. (2015). Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India. BMC Medical Genetics, 16, [33]. https://doi.org/10.1186/s12881-015-0178-x