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Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome
Bartter syndrome (BS) is classified into 5 genotypes according to underlying mutant genes and BS III is caused by loss-of-function mutations in the CLCNKB gene encoding for basolateral ClC-Kb. BS III is the most common genotype in Korean patients with BS and W610X is the most common CLCNKB mutation...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677996/ https://www.ncbi.nlm.nih.gov/pubmed/23772144 http://dx.doi.org/10.3346/jkms.2013.28.6.821 |