Extended Data Fig. 2: Sanger DNA sequencing of homozygous APOEch carrier individual. | Nature Medicine

Extended Data Fig. 2: Sanger DNA sequencing of homozygous APOEch carrier individual.

From: Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report

Extended Data Fig. 2

Representative direct sequencing results of amplicon in APOE gene from control, proband, and descendants’ samples. R136 homozygous sequence is shown in upper panel from a control individual. In the middle panel, proband case is shown. R136S homozygous mutation can be observed, resulting from a change from cytosine (C) to adenine (A). In bottom panel a R136S heterozygous mutation from a descendant is identified. Data representative of n = 2 independent experiments and further validated independently with whole exome and whole genome sequencing.

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