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Article

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

BMC nephrology - 13 Nov 2021

Wu Jing, Zhang Jun, Liu Li, Zhang Bo, Yamamura Tomohiko, Nozu Kandai, Matsuo Masafumi, Zhao Jinghong

Abstract excerpt

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 little is known about the intronic disease-causing variants. METHODS: A Chinese AS family was recruited in this study. All the...

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Identifiers

PMID: 34774011
DOI: 10.1186/s12882-021-02585-7
PMCID: PMC8590243

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.PMID 34774011Read ↗

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