PMC5431607_01
Sanger sequence of control and patient DNA: upper panel shows a wild-type (normal) sequence and lower panel shows a heterozygous c.1364 G > A mutation (arrow).
10.1177_2050313X17706044-fig1.jpg
PMC5431607_01_10.1177_2050313X17706044-fig1.jpg
fig1-2050313X17706044
The patient's genetic mutation was confirmed at our laboratory with bidirectional Sanger sequencing (Figure 1).