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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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| Yayımlandı: | Sci Rep |
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2019
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| Konular: | |
| 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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