Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Figure 1
Sequencing electropherograms showing CYP11B1 mutations in Patient 1. Wild-type CYP11B1 DNA sequences encoding p.E67 (a) and p.R448 (c) from a normal individual are shown as reference. Patient 1 is compound heterozygous for a novel exon 1 p.E67fs (c.199delG) frameshift mutation on one allele (b) and an exon 8 p.R448H mutation on the other allele (d) of the CYP11B1 gene. Patient 2, the younger brother of Patient 1, carries identical mutations.
