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Paper Details

Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
2
2022
1034 bp deletion, Asp183His, Exome, SIX6, amino acid, aspartic acid, c.547G, chr14:g.60975890_60976923del, coloboma, congenital cataract, corneal abnormalities, corneal opacification, double, double-stranded DNA, exon, genomic DNA, histidine, human, inherited eye disease, microcornea, microphthalmia, nucleotide, patients, protein sequences, single nucleotide polymorphism (SNP) microarrays
Author NameAffiliation
Narcis Fernandez-FuentesInstitute of Biological, Aberystwyth University
Narcis Fernandez-FuentesInstitute of Biological, Aberystwyth University
Martin McKibbinLeeds Institute of Medical Research, University of Leeds
Martin McKibbinEye Clinic, St. James's University Hospital
David A D ParryLeeds Institute of Medical Research, University of Leeds
Clare V LoganLeeds Institute of Medical Research, University of Leeds
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