Article
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Clinical genetics - 1 Nov 2015
Nabais Sá M J, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo J A, Gaspar M A, Soares C, Oliveira A, Henriques A C, da Costa A G, Abreu C P, Ponce P, Alves R, Pinho L, Silva S E, de Moura C P, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira J P
Abstract excerpt
Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between...
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