ArticleAmerican journal of hematology2010
Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.
Article in American journal of hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
- Semiquantitative acid-base analysis in hypokalemic dogs with immune-mediated hemolytic anemia.Frontiers in veterinary science · 2025Article
- Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary SpherocytosisIranian biomedical journal · 2021Article
- Familial distal renal tubular acidosis.The Journal of international medical research · 2021Article
- Case Report: Identification of Polygenic Mutations by Exome Sequencing.Frontiers in pediatrics · 2021Article
- A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.Blood · 2018Article
- Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.Journal of Korean medical science · 2018Article
- Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.Pediatric health, medicine and therapeutics · 2018Review
- Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.The Journal of general physiology · 2017Article
- Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.Clinical kidney journal · 2017Article
- A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.Scientific reports · 2016Article
- Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to HomozygousIndian journal of nephrologyArticle
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.