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1 Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome

Cho HY, Lee BH, Cheong HI

KMID: 2158027
J Korean Med Sci.
2013 Jun;28(6):821-826.
doi: 10.3346/jkms.2013.28.6.821

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...

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