title: Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Mizumori
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Muto
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Uchida
authors.forename: Sei
authors.initials: S
authors.lastname: Sasaki
authors.forename: Eiji
authors.initials: E
authors.lastname: Kusano
mesh_terms: 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*
chemical_list: D011955:Receptors, Drug; D049992:Sodium Chloride Symporters; C064415:thiazide receptor; D012965:Sodium Chloride; D002118:Calcium