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Article

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.

Journal of genetics - 1 Jun 2017

Guo Liwei, Li Duan, Dong Shuangshuang, Wan Donghao, Yang Baosheng, Huang Yanmei

Abstract excerpt

Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was...

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PMID: 28674241
DOI: 10.1007/s12041-017-0786-7

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