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...

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Detalles Bibliográficos
Autores principales: Adam, Jennifer, Connor, Thomas M. F., Wood, Katrina, Lewis, David, Naik, Ramesh, Gale, Daniel P., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Clinical Cases
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

Internet

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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