Figure 2 of
Demirci, Mol Vis 2006;
Figure 2. Sequence analysis of SLC4A4 exon 14
Analysis of the patient's leukocyte DNA revealed a novel, homozygous T to C transition that is predicted to result with the replacement of a leucine residue with proline at codon 522 in hkNBCe1. This sequence variant was not detected in 100 control chromosomes.