A Novel Missense Mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) Causes Proximal Tubular Acidosis and Glaucoma through Ion Transport Defects-Reference-Cited by-同舟云学术

A Novel Missense Mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) Causes Proximal Tubular Acidosis and Glaucoma through Ion Transport Defects

Published:2004-12 Issue:50 Volume:279 Page:52238-52246
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Dinour Dganit,Chang Min-Hwang,Satoh Jun-ichi,Smith Brenda L.,Angle Nathan,Knecht Aaron,Serban Irina,Holtzman Eli J.,Romero Michael F.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference41 articles.

1. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

2. Genetic Diseases of Acid-Base Transporters

3. Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H+-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis

4. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

5. 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

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