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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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| Publicat a: | J Physiol |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | 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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