Genetic diagnosis of Alport syndrome in 16 Chinese families

Genetic diagnosis of Alport syndrome in 16 Chinese families

Abstract Background Alport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal outcomes. Methods In this study, 16 Chinese famil...

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Bibliographic Details
Main Authors: Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome
COL4A3
COL4A4
COL4A5
variants
Online Access:https://doi.org/10.1002/mgg3.2406

Internet

https://doi.org/10.1002/mgg3.2406

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