Non-collagen genes role in digenic Alport syndrome

Non-collagen genes role in digenic Alport syndrome

Abstract Background Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutations in COL4 genes. The disease has been linked to COL4A3/COL4A4/COL4A5...

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Bibliographic Details
Main Authors: S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, A. M. Pinto
Format: Article
Language:English
Published: BMC 2019-02-01
Series:BMC Nephrology
Subjects:
Alport syndrome
LAMA5
NPHS2
Digenic inheritance
WES
Online Access:http://link.springer.com/article/10.1186/s12882-019-1258-5

Internet

http://link.springer.com/article/10.1186/s12882-019-1258-5

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