PMC3687645_01
PMC3687645_02
Sequencing of the AAAS gene. Novel homozygous mutation: IVS7+1 G to
A. The parents were heterozygous for the same mutation.
cpe-21-011-g001.jpg
PMC3687645_02_cpe-21-011-g001.jpg
fig_001
Sequencing analysis of the AAAS gene was then performed, and a novel homozygous mutation was identified in our patient, involving the first base of the donor splice site of IVS7 (IVS7+1 G>A) (Fig. 1).