Associated Papers
Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient.
Liu Y et al.
Biochemical Genetics, 2024
Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene.
Liu Y et al.
Frontiers in Pediatrics, 2022
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
Horita S et al.
Bmc Medical Genetics, 2018
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
Lo YF et al.
Kidney International, 2011
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.
Toye AM et al.
American Journal of Physiology. Cell Physiology, 2006
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