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Figure 1 | BMC Medical Genetics

Figure 1

From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

Figure 1

The segregation of the PKD1 germline mutation p.E3918X with the disease in family 256. a. Denaturing Gradient Gel Electrophoresis of PCR products of part A of exon 43 of the family 256. Lane 1 represents control. Lanes 2, 3 and 5 represent heterozygous affected members of the family. Lanes 4 and 6 represent healthy members of the family. b. Sequencing pattern of part of the exon 43 (forward) in proband of the family 256 with heterozygous substitution G>T at nucleotide position 11752 of the PKD1 gene (p.E3918X) and control.

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