A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
Abstract Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes. Most disease-causing variants of AS are located in the exons or the conservative splicing sites of these genes, while litt...
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| Auteurs principaux: | , , , , , , , |
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| Format: | article |
| Langue: | EN |
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BMC
2021
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| Accès en ligne: | https://doaj.org/article/e59868b416584230bfe8a3f1f70e8be4 |
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