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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

Fig. 2

Results of the mini-gene splicing assay. (A) sanger sequencing of mini-gene construction, the upper panel is the sequence of wild type, the lower panel is the sequence of mutant type (c. 1271 + 4_1271 + 7delAGTA); (B) Gel electrophoresis of RT-PCR products; (C) schematic diagram of mini-gene construction and the mutant type splicing; (D) The mutant mini-gene caused a splicing abnormality, resulting in the retention of the 96 bp in intron 10

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