PMC5768273_01
Chromatogram showing the DNA sequences of a healthy normal control (the patient's father) and the patient. The patient had a C > T mutation, which resulted in the 115th amino acid changing from histidine to threonine.
10.1177_2050313X17753788-fig1.jpg
PMC5768273_01_10.1177_2050313X17753788-fig1.jpg
fig1-2050313X17753788
H115T; Figure 1).