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http://purl.uniprot.org/citations/21403853http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21403853http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients.

Methods

We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n=55) and 50 ethnically matched healthy controls. All cases and controls were unrelated.

Results

Sequencing VSX1 revealed the presence of five nucleotide changes, 3 of which were non-coding (g.8326 G>A, g.10945 G>T, and g.11059 A>C) and 2 were synonymous-coding sequence changes (g.5053 G>T and g.8222 A>G). All five sequence changes were benign polymorphisms with no apparent clinical significance.

Conclusions

In our keratoconus cohort, no pathogenic VSX1 mutation(s) were identified."xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/author"Abu-Amero K.K."xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/author"Al-Muammar A.M."xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/author"Kalantan H."xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/name"Mol Vis"xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/pages"667-672"xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/title"Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia."xsd:string
http://purl.uniprot.org/citations/21403853http://purl.uniprot.org/core/volume"17"xsd:string
http://purl.uniprot.org/citations/21403853http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21403853
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http://purl.uniprot.org/uniprot/#_D3YHE7-mappedCitation-21403853http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21403853
http://purl.uniprot.org/uniprot/#_Q9NZR4-mappedCitation-21403853http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21403853
http://purl.uniprot.org/uniprot/Q9NZR4http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/21403853
http://purl.uniprot.org/uniprot/D3YHE7http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/21403853