Skip to main content
Fig. 2 | BMC Medical Genetics

Fig. 2

From: A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

Fig. 2

Characterization and gene dosage of the genomic deletion at 2p13.3 (a) Successful PCR amplification across the junction breakpoint in the patient (P) and his parents (F, M) but not in a control individual with normal genomic DNA (C). b Sequencing revealed the insertion of 2 nucleotides (GG) at the site of the deletion. c Semi-quantitative PCR confirmed that gene dosage of ATP6V1B1 and exons 2 and 3 of VAX2 is reduced in the parents (F, M) compared to the control (C)

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us