A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

Abstract Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes. Most disease-causing variants of AS are located in the exons or the conservative splicing sites of these genes, while litt...

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Bibliographic Details
Main Authors:	Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao
Format:	Article
Language:	English
Published:	BMC 2021-11-01
Series:	BMC Nephrology
Subjects:	Alport syndrome COL4A5 Whole exome sequencing Splicing error Minegene assay
Online Access:	https://doi.org/10.1186/s12882-021-02585-7

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