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Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations...
Sá, MJ; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araújo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; Costa, AG; Abreu, CPPathogenic 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 homozygo...
A whole genome screen for association with multiple sclerosis in Portuguese pat...
Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, EMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these...
A whole genome screen for association with multiple sclerosis in Portuguese pat...
Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, EMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these...
A whole genome screen for association with multiple sclerosis in Portuguese pat...
Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, EMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these...
A whole genome screen for association with multiple sclerosis in Portuguese pat...
Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, EMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these...
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