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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935734/ https://www.ncbi.nlm.nih.gov/pubmed/32201916 http://dx.doi.org/10.1007/s10157-020-01876-x

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