Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis.
Cheng
Nai-Lin
NL
Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, No. 325, Section 2 Cheng-Kung Road, Neihu 114, Taipei, Taiwan.
Kao
Ming-Ching
MC
Hsu
Yaw-Don
YD
Lin
Shih-Hua
SH
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D005260:Female; D006579:Heterozygote; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010243:Paralysis / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011955:Receptors, Drug; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D049992:Sodium Chloride Symporters; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D013577:Syndrome
D002352:Carrier Proteins; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D049992:Sodium Chloride Symporters; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; C064415:thiazide receptor