Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene

Abstract Background Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV colla...

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Bibliographic Details
Main Authors: C. Cervera-Acedo, A. Coloma, E. Huarte-Loza, M. Sierra-Carpio, E. Domínguez-Garrido
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Nephrology
Subjects:
Alport syndrome
COL4A3 gene
Microhematuria
Proteinuria, genotype-phenotype correlation
Online Access:http://link.springer.com/article/10.1186/s12882-017-0735-y

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http://link.springer.com/article/10.1186/s12882-017-0735-y

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