Article
A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.
Scientific reports - 21 Oct 2016
Takeuchi Takumi, Hattori-Kato Mami, Okuno Yumiko, Kanatani Atsushi, Zaitsu Masayoshi, Mikami Koji
Abstract excerpt
Various conditions including distal renal tubular acidosis (dRTA) can induce stone formation in the kidney. dRTA is characterized by an impairment of urine acidification in the distal nephron. dRTA is caused by variations in genes functioning in intercalated cells including SLC4A1/AE1/Band3 transcribing two kinds of mRNAs encoding the Cl-/HCO3- exchanger in erythrocytes and that expressed in α-intercalated cells...
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