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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Shetty, Rohit, Nuijts, Rudy M.M.A., Nanaiah, Soumya Ganesh, Anandula, Venkata Ramana, Ghosh, Arkasubhra, Jayadev, Chaitra, Pahuja, Natasha, Kumaramanickavel, Govindasamy, Nallathambi, Jeyabalan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados