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Article

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

European journal of human genetics : EJHG - 1 Jan 2017

Karolak Justyna A, Gambin Tomasz, Pitarque Jose A, Molinari Andrea, Jhangiani Shalini, Stankiewicz Pawel, Lupski James R, Gajecka Marzena

Abstract excerpt

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 to reduce the number of candidate genes at the 5q31.1-q35.3 locus and to prioritize other potentially relevant...

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Identifiers

PMID: 27703147
DOI: 10.1038/ejhg.2016.130
PMCID: PMC5159765

Genes

PROB1
SKP1
HKDC1

Variants

Provenance

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