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...
| Main Authors: | , , |
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| Format: | Online |
| Language: | English |
| Published: |
The Korean Academy of Medical Sciences
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677996/ |