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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Detaylı Bibliyografya
Yayımlandı:Clin Exp Nephrol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Singapore 2020
Konular:
Original Article
Online Erişim: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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