Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
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 |