Molecular basis of Bartter's syndrome: new insights into the correlation between genotype and phenotype.
Asteria
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Institute of Endocrine Sciences, Ospedale Maggiore IRCCS, University of Milan, Italy.
D001477:Bartter Syndrome / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000502:physiology; D010641:Phenotype; D011188:Potassium / Q000502:physiology; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying; D012964:Sodium / Q000378:metabolism; D049992:Sodium Chloride Symporters; D028021:Sodium-Potassium-Chloride Symporters; D027981:Symporters; D014882:Water-Electrolyte Balance
D002352:Carrier Proteins; C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D049992:Sodium Chloride Symporters; D028021:Sodium-Potassium-Chloride Symporters; D027981:Symporters; D012964:Sodium; D011188:Potassium