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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
Publicado en:Kidney Int
Autor Principal: Miner, Jeffrey H.
Formato: Artigo
Idioma:Inglês
Publicado: 2014
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4246419/
https://ncbi.nlm.nih.gov/pubmed/25427084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2014.326
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