Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption.
Mizumori
Yasuyuki
Y
Muto
Shigeaki
S
Uchida
Shin-ichi
S
Sasaki
Sei
S
Kusano
Eiji
E
D019943:Amino Acid Substitution / Q000235:genetics*; D002118:Calcium / Q000652:urine*; D005260:Female; D053579:Gitelman Syndrome / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000378:metabolism*; D008875:Middle Aged; D011955:Receptors, Drug / Q000235:genetics*; D012965:Sodium Chloride / Q000378:metabolism*; D049992:Sodium Chloride Symporters / Q000235:genetics*
D011955:Receptors, Drug; D049992:Sodium Chloride Symporters; C064415:thiazide receptor; D012965:Sodium Chloride; D002118:Calcium