Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations

• Main Authors: Keng, E. Choo, Taija, K. Nicoli, Lesle, J. Bruce, Tanner, Michael J. A., Ruiz-Linares, Andres, Wrong, Oliver M.
• Format: E-Article
• Language: English
• Published: Springer 2006
• Subjects: RA0421 Public health. Hygiene. Preventive Medicine
• Online Access: http://ir.unimas.my/id/eprint/15746/1/Recessive%20distal%20renal%20tubular%20acidosis%20in%20Sarawak%20caused%20by%20AE1%20mutations%20%28abstract%29.pdf; http://ir.unimas.my/id/eprint/15746/; https://www.springermedizin.de/recessive-distal-renal-tubular-acidosis-in-sarawak-caused-by-ae1/8548886

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE...