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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Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2019
Konular:
Article
Online Erişim: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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