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[Analysis of genetic variant in a child with autosomal recessive Alport syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2021

Chen Lan, Zhang Yiyan, Lin Weisheng

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with Alport syndrome. METHODS: Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls. RESULTS: The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the...

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Identifiers

PMID: 34625929
DOI: 10.3760/cma.j.cn511374-20200713-00510

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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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