Long-term prognosis and clinical characteristics of 15 patients with CLCNKB mutations after 17 [14–22]<sup>*</sup> years of follow-up (expressed as number or mean ± SD).
Abstract
Long-term prognosis and clinical characteristics of 15 patients with CLCNKB mutations after 17 [14–22]* years of follow-up (expressed as number or mean ± SD).</p- Dataset
- Dataset
- Medicine
- Genetics
- Cancer
- Virology
- Biological Sciences not elsewhere classified
- QMPSF
- Type III Bartter syndrome Introduction Type III Bartter syndrome
- PCR
- chloride channel protein ClC-Kb
- CLCNKB gene
- novel CLCNKB mutations
- type III BS phenotype
- polymerase chain reaction
- Poor phenotype-genotype association
- p.Glu 442Gly mutation
- cohort
- type III BS
- deletion
- Methods Clinical data
- MLPA
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Last time updated on 12/02/2018
This paper was published in The Francis Crick Institute.
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