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[Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene].

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

Ma Qian, Wu Jinlin, Che Lingyi, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with X-linked hereditary Alport syndrome. METHODS: Next generation sequencing was carried out for the pedigree. Candidate variant was validated by Sanger sequencing. Pathological changes of renal basement membrane and expression of COL4A5 protein were analyzed by renal biopsy and immunofluorescence assay, respectively. RESULTS: All patients...

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PMID: 33974256
DOI: 10.3760/cma.j.cn511374-20200607-00415

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