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[Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].

Yi chuan xue bao = Acta genetica Sinica - 1 Nov 2004

Peng Chun-Long, Liang Hua, Z ou Qing-Ling, Wang Jing, Liu Chang-Sheng, Zhang Xiao-Feng, Chen Jie, Hu Song-Nian

Abstract excerpt

By means of PCR and direct sequencing, all 51 exons and their neighbouring intronic sequences of the COL4A5 gene were analyzed to detect mutations in 17 members from a Chinese family with X-linked Alport syndrome(XLAS). At the position 2240 in exon 26, a single-base deletion(2240deIC) is found in all male patients, and a heterozygous deletion is found in all female patients, whereas no mutation is found in normal...

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PMID: 15651669

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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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