Skip to main content
Fig. 1 | BMC Pediatrics

Fig. 1

From: A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Fig. 1

Electropherograms showing part of the SLC2A9 and SLC22A12 gene sequence in family with renal hypouricemia. The figure show allelic variant p.V282I (c.757G > A) and p.P350L (c.1049C > T) in the SLC2A9 gene in wild-type (II.1), heterozygote (I.1, I.2) and recessive homozygote state (proband II.2, II.3); and dysfunctional SLC22A12 variant p.T467 M (c.1400C > T) causes renal hypouricemia in wild-type (I.2) and heterozygous state (I.1, II.1, proband II.2, II.3). Reference sequence: SLC2A9 NC_000011, region: 64114688..64126396, SLC22A12 NC_000004, region: 9436946..9650970

Back to article page

BMC Pediatrics

ISSN: 1471-2431

Contact us