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[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2008

Tang Zhaohui, Dai Yong, Wan Zhihui, Zhan Tailan, Tan Jinwang, Ren Xiang, Liu Jingyu, Wang Qing, Liu Mugen

Abstract excerpt

OBJECTIVE: To identify the pathogenic mutation in a Chinese family with Alport syndrome. METHODS: Blood samples were collected from the members of the family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of the COL4A5 gene was performed, and restriction fragment length polymorphism (RFLP) analysis was used to confirm the sequencing results and to test the mutation in all the...

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PMID: 19065523

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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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