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Article

[Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2019

Ye Qing, Zhang Yingying, Wang Jingjing, Mao Jianhua

Abstract excerpt

OBJECTIVE: To investigate genetic characteristics of Alport syndrome. METHODS: High-throughput sequencing-based whole exome sequencing was performed in two patients with recurrent unexplained abnormal urinalysis. The pathogenicity of the genetic variations, type of Mendelian genetics, and clinical phenotypes were analysed, and the disease-cause mutations were confirmed in the family members using Sanger...

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Identifiers

PMID: 31901041
DOI: 10.3785/j.issn.1008-9292.2019.08.06
PMCID: PMC8800710

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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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