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

Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride–bicarbonate (Cl(−)/HCO(3) (−)) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder tha...

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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Ito, Naoko, Ihara, Kenji, Kamoda, Tomohiro, Akamine, Satoshi, Kamezaki, Kentaro, Tsuru, Noboru, Sumazaki, Ryo, Hara, Toshiro
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Japan 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413770/
https://ncbi.nlm.nih.gov/pubmed/28509104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-015-0172-3
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