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pro vyhledávání: '"Kentaro Kamezaki"'
Autor:
Noboru Tsuru, Kentaro Kamezaki, Tomohiro Kamoda, Kenji Ihara, Satoshi Akamine, Toshiro Hara, Ryo Sumazaki, Naoko Ito
Publikováno v:
CEN Case Reports. 4:218-222
Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride–bicarbonate (Cl−/HCO3 −) anion exchanger 1 (AE1). Most patients with this disorder present with clinical sympt