Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families

Chronic renal disease associated with X-linked Alport syndrome (XLAS) is relatively rare. However, due to the lack of specificity in the pathologic and clinical manifestations of the disease, it is easy to be misdiagnosed. In this study, we included three Chinese families with XLAS and used targeted...

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Detalles Bibliográficos
Autores principales: Wang, Sai, Shao, Yingfei, Wang, Yixiu, Lu, Jingru, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8968133/
https://www.ncbi.nlm.nih.gov/pubmed/35368650
http://dx.doi.org/10.3389/fgene.2022.847777