Autosomal Dominant Distal Renal Tubular Acidosis Is Associated in Three Families with Heterozygosity for the R589H Mutation in the AE1 (Band 3) Cl−/HCO3−Exchanger
Open Access
- 1 March 1998
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 273 (11) , 6380-6388
- https://doi.org/10.1074/jbc.273.11.6380
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Physiology and Biochemistry of the Kidney Vacuolar H+-ATPaseAnnual Review of Physiology, 1996
- Anion Exchanger 1 (Band 3) Is Required to Prevent Erythrocyte Membrane Surface Loss but Not to Form the Membrane SkeletonCell, 1996
- Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.Journal of Clinical Investigation, 1996
- MRF4, Myf-5, and myogenin mRNAs in the adaptive responses of mature rat muscleAmerican Journal of Physiology-Cell Physiology, 1995
- Absence of H(+)-ATPase in cortical collecting tubules of a patient with Sjogren's syndrome and distal renal tubular acidosis.Journal of the American Society of Nephrology, 1992
- Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.Proceedings of the National Academy of Sciences, 1992
- Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase.Proceedings of the National Academy of Sciences, 1989
- N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.Proceedings of the National Academy of Sciences, 1988
- Two types of collecting duct mitochondria-rich (intercalated) cells: lectin and band 3 cytochemistryAmerican Journal of Physiology-Cell Physiology, 1986
- Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.Proceedings of the National Academy of Sciences, 1983