Figure 2.
Sequencing results of intron5_exon6 border in CRB2 (5′–3′). A homozygous mutation (c.941-3C>T) in the affected individuals is indicated by an arrow (a). c.941-3C>T in CRB2 in heterozygous state in parents of the affected individuals (b). Wild type sequence of intron5_exon6 border in CRB2 in healthy control individuals (c). Structure of the CRB2 gene showing coding exons and non-coding introns, 3′ and 5′ UTRs, and position of the identified mutation in splice acceptor site of intron 5 (d).
