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

Fig. 2.

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Fig. 2.

Genomic DNA sequence analysis of ATM in the patient and his parents. (A and B-1) The patient was identified as being compound heterozygous for variants in ATM : a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant. (B-2) Conservation analysis of the amino acid sequence; the missense variant site was highly conserved across vertebrate species.

Journal of Genetic Medicine 2018;15:110-4
© 2018 Korean Society of Medical Genetics and Genomics