Associated Papers
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.
Deejai N et al.
Bmc Medical Genomics, 2022
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
Deejai N et al.
Laboratory Medicine, 2019
A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.
Wang D et al.
Nephron, 2019
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.
Khositseth S et al.
Qjm : Monthly Journal of the Association of Physicians, 2012
Natural history of Southeast Asian Ovalocytosis during the first 3 years of life.
Laosombat V et al.
Blood Cells, Molecules & Diseases, 2010
Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.
Ungsupravate D et al.
Molecular Membrane Biology, 2010
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.
Stewart AK et al.
American Journal of Physiology. Cell Physiology, 2010
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.
Anacleto FE et al.
Nephron. Physiology, 2010
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.
Khositseth S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
Choo KE et al.
Pediatric Nephrology (berlin, Germany), 2006