A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

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 little is kn...

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Detalles Bibliográficos
Autores principales: Wu, Jing, Zhang, Jun, Liu, Li, Zhang, Bo, Yamamura, Tomohiko, Nozu, Kandai, Matsuo, Masafumi, Zhao, Jinghong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590243/
https://www.ncbi.nlm.nih.gov/pubmed/34774011
http://dx.doi.org/10.1186/s12882-021-02585-7

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