Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family
Release date:
2022-08-09
Description:
In this study, we identified a novel heterozygous COL4A4 variant (c.853G>A) in a Chinese AS family and assisted to diagnose this AS proband as autosomal-dominant Alport syndrome (ADAS). Our study expands the spectrum of Alport syndrome mutations and contributes to the genetic counseling and diagnosis of patients with Alport syndrome.
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