Figure 1 | Human Genome Variation

Figure 1

From: Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

Figure 1

Brain imaging and PDHA1 DNA sequence in patient 2. Brain ultrasonography ((a) coronal section and (b) sagittal section images) demonstrated enlarged lateral ventricles on both sides and cystic lesions. (c) Brain MRI showed enlarged lateral ventricles on both sides and cystic changes around the lateral ventricles. (d) Direct PDHA1 DNA sequencing of white blood cell DNA in patient 2. Subcloning of PCR products generated from white blood cell DNA from patient 2 demonstrated a mixture of the normal sequence (e) and the c.433_435delTGT (p.C145del) mutation (f).

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