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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Hum Genet
मुख्य लेखकों: Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Springer International Publishing 2016
विषय:
ऑनलाइन पहुंच: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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