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Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome
Alport syndrome (AS) is an inherited progressive nephropathy caused by mutations in one or two of the type IV collagen novel chains (α3, α4 and α5), which are encoded by COL4A3, COL4A4 and COL4A5, respectively. To date, three genetic forms of AS have been reported, including X-linked AS, autosomal r...
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| 出版年: | Biomed Rep |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7323451/ https://ncbi.nlm.nih.gov/pubmed/32607233 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2020.1311 |
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