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Figure 2 | BMC Nephrology

Figure 2

From: Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene

Figure 2

Electrophoresis of cDNA and a fragment of the sequence cDNA from the patient. (A) PCR using the forward primer located in exon 6 and the reverse one located in exon 8. Control samples (a: extracted from leukocytes; b: extracted from kidney library) clearly show a single band. The sample from the patient (c: extracted from leukocytes), and her mother (d: extracted from leukocytes; e: extracted from urine sediment) shows two bands, one the same size as the control sample (a and b), and the other smaller. (B) Normal product (large band) shows a normal sequence. (C) The smaller product (small band) shows exon 6 immediately followed by exon 8, so that exon 7 has been skipped. a: control, leukocytes; b: control, kidney library; c: patient, leukocytes; d: mother, leukocytes; e: mother, urine sediment.

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