Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159765/
https://ncbi.nlm.nih.gov/pubmed/27703147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.130
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