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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Bibliographic Details
Main Authors: Adam, Jennifer, Connor, Thomas M. F., Wood, Katrina, Lewis, David, Naik, Ramesh, Gale, Daniel P., Sayer, John A.
Format: Online
Language:English
Published: Oxford University Press 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970340/