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Pathology versus molecular genetics: (re)defining the spectrum of Alport syndrome

Next generation sequencing applied to families with glomerular disease has been instrumental in identifying new genes and pathways involved in podocyte homeostasis. Malone et al. performed sequencing on 70 families with FSGS and discovered that 10% had variants in surprising “old” genes, COL4A3 and...

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Detalles Bibliográficos
Autor principal: Miner, Jeffrey H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246419/
https://www.ncbi.nlm.nih.gov/pubmed/25427084
http://dx.doi.org/10.1038/ki.2014.326