A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

Lignende værker

• Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
  af: Lee, Jae Wook, et al.
  Udgivet: (2016)
• Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene
  af: Al-Shibli, Amar, et al.
  Udgivet: (2014)
• Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome
  af: Cho, Hee Yeon, et al.
  Udgivet: (2013)
• Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome
  af: Cheng, Chih‐Jen, et al.
  Udgivet: (2017)
• Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation
  af: Cruz, António José, et al.
  Udgivet: (2013)