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

Internet

https://doi.org/10.1186/s12882-021-02585-7

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