HIGHLIGHTS
SUMMARY
Congenital aniridia (MIM #106210) is a rare panocular disease with an estimated worldwide incidence of about 1 per 50,000 to 100,000 births. There is increasing evidence that defects in PAX6 pre-mRNA_splicing represent a major cause of aniridia, with more than 100 described splicing variants accounting for up to 15% of diseasecausing variants. Most of them affect conserved nucleotides at exon-intron boundaries, i.e., canonical acceptor or donor splicing sites (30 SS and 50 SS, respectively). Most of them negatively impact splicing by creating or enhancing exonic and deep-intronic NCSS . . .
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