Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

Many genes have been suggested as candidate genes for keratoconus based on their function, their proximity to associated polymorphisms or due to the identification of putative causative variants within the gene. However, very few of these genes have been assessed for rare variation in keratoconus mo...

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Detalles Bibliográficos
Autores principales: Lucas, Sionne E. M., Zhou, Tiger, Blackburn, Nicholas B., Mills, Richard A., Ellis, Jonathan, Leo, Paul, Souzeau, Emmanuelle, Ridge, Bronwyn, Charlesworth, Jac C., Lindsay, Richard, Craig, Jamie E., Burdon, Kathryn P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010250/
https://www.ncbi.nlm.nih.gov/pubmed/29924831
http://dx.doi.org/10.1371/journal.pone.0199178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010250/
https://www.ncbi.nlm.nih.gov/pubmed/29924831
http://dx.doi.org/10.1371/journal.pone.0199178

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