Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1

BACKGROUND: In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases. We reproduced gene mutations by mutagenesis, inserted the mutat...

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Detalhes bibliográficos
Publicado no:Clin Exp Nephrol
Main Authors: Inoue, Tomohiko, Nagano, China, Matsuo, Masafumi, Yamamura, Tomohiko, Sakakibara, Nana, Horinouchi, Tomoko, Shibagaki, Yugo, Ichikawa, Daisuke, Aoto, Yuya, Ishiko, Shinya, Ishimori, Shingo, Rossanti, Rini, Iijima, Kazumoto, Nozu, Kandai
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Singapore 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7935734/
https://ncbi.nlm.nih.gov/pubmed/32201916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10157-020-01876-x
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