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...

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Detalles Bibliográficos
Autores principales: Cho, Hee Yeon, Lee, Beom Hee, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Original Article
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

Internet

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

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