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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2019
Aiheet:
Article
Linkit: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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