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[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2020

Liu Xiaowei, Gao Ming, Zou Yang, Wang Lijuan, Kang Ranran, Xu Peiwen, Niu Yuping, Huang Sexin, Li Jie, Xie Hongqiang, Gao Yuan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls. RESULTS: A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected...

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Identifiers

PMID: 32761583
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.001

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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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