Associated Papers
Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Hasturk B et al.
Pediatric Nephrology (berlin, Germany), 2025
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
Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.
Gil-Perotín S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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
A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis.
Myers EJ et al.
The Journal of Physiology, 2016
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
Modular structure of sodium-coupled bicarbonate transporters.
Boron WF et al.
The Journal of Experimental Biology, 2009
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
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.
Inatomi J et al.
Pflugers Archiv : European Journal of Physiology, 2004
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