共 111 条
[1]
Gitelman HJ(1966)A new familial disorder characterized by hypokalemia and hypomagnesemia Trans Assoc Am Physicians 79 221-235
[2]
Graham JB(2000)Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman’s syndrome and primary hypertension Hypertension 36 389-394
[3]
Welt LG(1996)Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome Am J Hum Genet 59 1019-1026
[4]
Melander O(1996)Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Nat Genet 12 24-30
[5]
Orho-Melander M(2007)Gitelman’s syndrome: towards genotype-phenotype correlations? Pediatr Nephrol 22 326-332
[6]
Bengtsson K(1996)Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3) Genomics 35 486-493
[7]
Mastroianni N(2002)Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome Hum Mutat 20 78-177
[8]
Bettinelli A(2013)Gitelman’s Syndrome: Asymptomatic Hypokalaemia in a Chinese Boy HK J Paediatr New Ser 18 174-551
[9]
Bianchetti M(1995)Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman’s syndrome) Kidney Int 47 547-260
[10]
Simon DB(2003)Recent advances in molecular genetics of hereditary magnesium-losing disorders J Am Soc Nephrol 14 249-1283