Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

BACKGROUND: X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Horinouchi, Tomoko, Yamamura, Tomohiko, Minamikawa, Shogo, Nagano, China, Sakakibara, Nana, Nakanishi, Koichi, Shima, Yuko, Morisada, Naoya, Ishiko, Shinya, Aoto, Yuya, Nagase, Hiroaki, Takeda, Hiroki, Rossanti, Rini, Ishimori, Shingo, Kaito, Hiroshi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434753/
https://ncbi.nlm.nih.gov/pubmed/32543079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1342
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