A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

BACKGROUND: X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with XLAS, confirm a diagnosis, and provide an ac...

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Detalles Bibliográficos
Autores principales: Qian, Pei, Bao, Ying, Huang, Hui-mei, Suo, Lei, Han, Yan, Li, Zhi-juan, Zhang, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880855/
https://www.ncbi.nlm.nih.gov/pubmed/36714647
http://dx.doi.org/10.3389/fped.2022.1009188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880855/
https://www.ncbi.nlm.nih.gov/pubmed/36714647
http://dx.doi.org/10.3389/fped.2022.1009188

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