Fig. 2: Direct sequencing of MTTL1 from blood revealed the m.3243A>T mutation.
From: Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Sequencing chromatogram of the MTTL1 gene shows the heteroplasmic m.3243A>T mutation in the control sample and in blood, hair, nail, saliva, and fibroblasts from the patient