Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses
Author:
Funder
Guangxi Zhuang Region Health Department
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference20 articles.
1. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III;Simon;Nat. Genet.,1997
2. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2;Simon;Nat. Genet.,1996
3. Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter;Pressler;J. Am. Soc. Nephrol.,2006
4. A case of Bartter syndrome type I with atypical presentations;Lee;Korean J. Pediatr.,2010
5. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis;Yamazaki;Pediatr. Nephrol.,2009
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