PMC4004903_01
Sequence analysis of the V2 receptor gene. (a) The patient had a 4 base insertion
(855/856insCGCA) denoted by the arrow and underline. (b) His mother had this mutation
as a heterozygous state. Note overlapping signals after the insertion site. (c) The
sequence of the wild-type gene. The numbers refer to the nucleotides in the genomic
sequence in GeneBank accession no L22206; the initial base of the initiation codon is
denoted as nucleotides 1.
cpe-15-041-g001.jpg
PMC4004903_01_cpe-15-041-g001.jpg
fig_001
A four base insertion (ins855/856CGCA) was identified in the V2 receptor gene in the patient (Fig. 1a). His mother was shown to be heterozygous for the mutation (Fig. 1b).