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

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 collagen, nam...

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Detalles Bibliográficos
Autores principales: Cervera-Acedo, C., Coloma, A., Huarte-Loza, E., Sierra-Carpio, M., Domínguez-Garrido, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664579/
https://www.ncbi.nlm.nih.gov/pubmed/29089023
http://dx.doi.org/10.1186/s12882-017-0735-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664579/
https://www.ncbi.nlm.nih.gov/pubmed/29089023
http://dx.doi.org/10.1186/s12882-017-0735-y

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