Collagen Type IV‐related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Families
M. J. Nabais Sa,S. Sampaio,A. Oliveira,S. Alves,C. P. Moura,S. E. Silva,R. Castro,J. A. Araujo,M. Rodrigues,F. Neves,J. Seabra,C. Soares,M. A. Gaspar,I. Tavares,L. Freitas, T. C. Sousa,A. C. Henriques,F. T. Costa,E. Morgado,F. T. Sousa,J. P. Sousa,A. G. da Costa,R. Filipe,J. Garrido,J. Montalban,P. Ponce,R. Alves,B. Faria,M. F. Carvalho,M. Pestana,F. Carvalho,J. P. Oliveira Clinical Genetics(2014)
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COL4A5 mutations,genotype-phenotype correlation,Portuguese population,X-linked Alport syndrome
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