Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X‐linked Alport syndrome

BACKGROUND: Alport syndrome is an inherited renal disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Coexisting mutations in either two of the three genes in Alport patients have been reported recently. However, the effect of heterozygous mutations in COL4A3 or COL4A4 genes in X‐linked...

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Detalles Bibliográficos
Autores principales: Zhang, Yanqin, Ding, Jie, Zhang, Hongwen, Yao, Yong, Xiao, Huijie, Wang, Suxia, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503168/
https://www.ncbi.nlm.nih.gov/pubmed/30883042
http://dx.doi.org/10.1002/mgg3.647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503168/
https://www.ncbi.nlm.nih.gov/pubmed/30883042
http://dx.doi.org/10.1002/mgg3.647

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