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Genetic testing can resolve diagnostic confusion in Alport syndrome
Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as fe...
Autores principales: | Adam, Jennifer, Connor, Thomas M. F., Wood, Katrina, Lewis, David, Naik, Ramesh, Gale, Daniel P., Sayer, John A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970340/ https://www.ncbi.nlm.nih.gov/pubmed/24944784 http://dx.doi.org/10.1093/ckj/sft144 |
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