Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2.

Electropherogram showing the novel heterozygous frameshift mutation of PRRT2. Sanger sequencing in all three of the affected family members showed the novel pathogenic variant of PRRT2 (c.640delinsCC), which located near the genetic hot spot of base 649_650.

Journal of Genetic Medicine 2019;16:19-22 https://doi.org/10.5734/JGM.2019.16.1.19
© 2019 Korean Society of Medical Genetics and Genomics