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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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
BMC
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/e59868b416584230bfe8a3f1f70e8be4 |
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