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Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

BACKGROUND: Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. It is a genetically heterogeneous disease with different mutations and forms of inheritance that presents with renal affection, hearing loss and eye defec...

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Detalles Bibliográficos
Autores principales:	Antón-Martín, Pilar, López, Cristina Aparicio, Ramiro-León, Soraya, Garzón, Sonia Santillán, Santos-Simarro, Fernando, Gil-Fournier, Belén
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Libertas Academica 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3620815/ https://www.ncbi.nlm.nih.gov/pubmed/23641165 http://dx.doi.org/10.2147/CBF.S23366

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