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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Vydáno v:Eur J Hum Genet
Hlavní autoři: Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2016
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Article
On-line přístup: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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