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Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome

KEY POINTS: The highly variable phenotypes observed in patients with classic Bartter's syndrome (BS) remain unsatisfactorily explained. The wide spectrum of functional severity of CLCNKB mutations may contribute to the phenotypic variability, and the genotype–phenotype association has not been...

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Pubblicato in:J Physiol
Autori principali: Cheng, Chih‐Jen, Lo, Yi‐Fen, Chen, Jen‐Chi, Huang, Chou‐Long, Lin, Shih‐Hua
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5556149/
https://ncbi.nlm.nih.gov/pubmed/28555925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP274344
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