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Fig. 2 | BMC Medical Genetics

Fig. 2

From: HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

Fig. 2

a Electropherogram of part of GATA3 exon 6. Our case had a heterozygous 1201_1202del AT of the GATA3 gene. Sequences of the control and the patient alleles are reported. A control reveals any carriers with the c. 1201_1202del AT. F and R indicate forward and reverse sequencings, respectively. b Wild-type sequence and predicted amino acid sequence resulting from frameshift mutation. Bold type indicates the new amino acid sequence

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