scholarly journals A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Takumi Takeuchi ◽  
Mami Hattori-Kato ◽  
Yumiko Okuno ◽  
Atsushi Kanatani ◽  
Masayoshi Zaitsu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Anion Exchanger 1 ◽  
Renal Tubular

A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis

PEDIATRICS ◽  
2003 ◽  
Vol 112 (6) ◽  
pp. 1361-1367 ◽  
Author(s):  
L. Cheidde ◽  
T. C. Vieira ◽  
P. R. M. Lima ◽  
S. T. O. Saad ◽  
I. P. Heilberg
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Novel Mutation ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Dominant and Recessive Distal Renal Tubular Acidosis Mutations of Kidney Anion Exchanger 1 Induce Distinct Trafficking Defects in MDCK Cells

Traffic ◽  
2005 ◽  
Vol 7 (2) ◽  
pp. 117-128 ◽  
Author(s):  
Emmanuelle Cordat ◽  
Saranya Kittanakom ◽  
Pa-thai Yenchitsomanus ◽  
Jing Li ◽  
Kai Du ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Mdck Cells ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Trafficking Defects ◽  
Renal Tubular

Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis

2006 ◽  
Vol 350 (3) ◽  
pp. 723-730 ◽  
Author(s):  
Nunghathai Sawasdee ◽  
Wandee Udomchaiprasertkul ◽  
Sansanee Noisakran ◽  
Nanyawan Rungroj ◽  
Varaporn Akkarapatumwong ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Southeast Asian ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

2003 ◽  
Vol 48 (9) ◽  
pp. 451-456 ◽  
Author(s):  
Pa-thai Yenchitsomanus ◽  
Nunghathai Sawasdee ◽  
Atchara Paemanee ◽  
Thitima Keskanokwong ◽  
Somkiat Vasuvattakul ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Distal Renal Tubular Acidosis ◽  
Thai Population ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in Thailand

2007 ◽  
Vol 49 (6) ◽  
pp. 841-850.e1 ◽  
Author(s):  
Sookkasem Khositseth ◽  
Apiwan Sirikanerat ◽  
Kulruedee Wongbenjarat ◽  
Sauwalak Opastirakul ◽  
Siri Khoprasert ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis

2009 ◽  
Vol 76 (7) ◽  
pp. 774-783 ◽  
Author(s):  
Yu-Hsiang Chang ◽  
Chen-Fu Shaw ◽  
Shu-Huei Jian ◽  
Kai-Hsien Hsieh ◽  
Yee-Hsuan Chiou ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Hereditary Spherocytosis ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family

2015 ◽  
Vol 4 (2) ◽  
pp. 218-222 ◽  
Author(s):  
Naoko Ito ◽  
Kenji Ihara ◽  
Tomohiro Kamoda ◽  
Satoshi Akamine ◽  
Kentaro Kamezaki ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Autosomal Dominant ◽  
Distal Renal Tubular Acidosis ◽  
Japanese Family ◽  
Anion Exchanger 1 ◽  
Renal Tubular
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