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

Fig. 2.

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Fig. 2.

Identification of a point mutation of the STAT1 gene. The patient is carrying compound heterozygous c.1162A>G (p.K388E) mutation.

Journal of Genetic Medicine 2018;15:92-6 https://doi.org/10.5734/JGM.2018.15.2.92
© 2018 Korean Society of Medical Genetics and Genomics