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Article

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.

Genetic testing and molecular biomarkers - 1 Apr 2016

Chen Chen, Lu Chao-Xia, Wang Qiong, Cao Li-Hua, Luo Yang, Zhang Xue

Abstract excerpt

AIMS: Alport syndrome (AS) is a genetically heterogeneous disorder, characterized by hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. The aim of this study was to identify underlying mutations in individuals from a Chinese family with X-linked AS. METHODS: We performed targeted next-generation sequencing (NGS)...

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Source

Identifiers

PMID: 26866448
DOI: 10.1089/gtmb.2015.0248

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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