Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Figure 2
Sequencing electropherograms showing CYP11B1 mutations in Patient 3. Wild-type CYP11B1 DNA sequences encoding p.R141 (a) and p.T318 (c) from a normal individual are shown as reference. Patient 3 is compound heterozygous for a novel exon 3 p.R141Q mutation on one allele (b) and an exon 5 p.T318R mutation on the other allele (d) of the CYP11B1 gene.
