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
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
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
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