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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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Detalhes bibliográficos
Publicado no:J Physiol
Main Authors: Cheng, Chih‐Jen, Lo, Yi‐Fen, Chen, Jen‐Chi, Huang, Chou‐Long, Lin, Shih‐Hua
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha: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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