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

Fig. 1.

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Fig. 1.

Brain magnetic resonance image (MRI) and chromatogram by the Sanger sequence. The brain MRI at 14 years of age shows fluid-attenuated inversion recovery-high signal changes in the white matter of parieto-occipital area and splenium (A and B). The chromatogram of Sanger sequence reveals that nucleoside substitution from guanine to adenine at the position of 136 base in GJB1 gene (c.136G>A, p.Asp46Asn, NM_000166.5) (C).

Journal of Genetic Medicine 2018;15:107-9
© 2018 Korean Society of Medical Genetics and Genomics