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

Fig. 3.

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Fig. 3.

(A) The DNA and corresponding amino acid sequences of the wild-type and mutant GLA alleles are shown. The 25-base deletion at nucleotide 1117–1141 shifts the frame, leading to premature termination at amino acid 382 in exon 7. (B) Representative chromatograms of polymerase chain reaction, fragments showing the presence of the 25-base deletion in the index patient (IV.2) and two female carriers (III.1 and IV.1), but not in the unaffected father.

Journal of Genetic Medicine 2018;15:28-33
© 2018 Korean Society of Medical Genetics and Genomics