Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family

BACKGROUND: Chronic kidney disease caused by X-linked Alport syndrome (XLAS) is relatively rare. However, due to the nonspecific pathologic and clinical manifestations of this disease, it is easily misdiagnosed. Genetic testing is crucial in identifying suspected cases. In addition, the results of g...

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Detalles Bibliográficos
Autores principales: Chen, Xiaolei, Ye, Nan, Zhang, Lu, Zheng, Wen, Cheng, Jingqiu, Gong, Meng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506736/
https://www.ncbi.nlm.nih.gov/pubmed/34733972
http://dx.doi.org/10.21037/atm-21-3523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506736/
https://www.ncbi.nlm.nih.gov/pubmed/34733972
http://dx.doi.org/10.21037/atm-21-3523

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