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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Springer Singapore 2020
Teme:
Original Article
Online dostop: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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