Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations
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...
Saved in:
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: | |
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 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Anion Exchanger 1 Gene (AE1)
Single Nucleotide Polymorphism (SNP)
Analysis Among Malays
With Distal Renal Tubular Acidosis
(DRTA) And Southeast Asian
Ovalocytosis (SAO)
by: Raman, Yamunah
Published: (2018) -
Ultrasound roles in aiding emergency department renal tubular acidosis diagnosis
by: Zhen, Zhen Lo, et al.
Published: (2020) -
Single channel magnetic induction spectroscopy technique for fetal acidosis detection
by: Sarkawi, S., et al.
Published: (2016) -
Buffer to a recession
Published: (2009) -
Inherited peripheral neuropathies: Mutational analysis of cytoplasmic dyneindynactin genes and the identification of a novelautosomal recessive gene / Tey Shelisa
by: Tey, Shelisa
Published: (2017)