Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always avail...

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Pubblicato in:Sci Rep
Autori principali: Horinouchi, Tomoko, Nozu, Kandai, Yamamura, Tomohiko, Minamikawa, Shogo, Nagano, China, Sakakibara, Nana, Nakanishi, Koichi, Shima, Yuko, Morisada, Naoya, Ishiko, Shinya, Aoto, Yuya, Nagase, Hiroaki, Takeda, Hiroki, Rossanti, Rini, Kaito, Hiroshi, Matsuo, Masafumi, Iijima, Kazumoto
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6722096/
https://ncbi.nlm.nih.gov/pubmed/31481700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-48990-9
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