case_images: PMC5768273_01
case_images: 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.
case_images: 10.1177_2050313X17753788-fig1.jpg
case_images: PMC5768273_01_10.1177_2050313X17753788-fig1.jpg
case_images: fig1-2050313X17753788
case_images: H115T; Figure 1).