Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Genetic testing in the clinic and research lab is becoming more routinely used to identify rare genetic variants. However, attributing these rare variants as the cause of disease in an individual patient remains challenging. Here, we report a patient who presented with nephrotic syndrome and focal s...

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Udgivet i:PLoS One
Main Authors: Feng, Di, Steinke, Julia M., Krishnan, Ramaswamy, Birrane, Gabriel, Pollak, Martin R.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5158186/
https://ncbi.nlm.nih.gov/pubmed/27977723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0167467
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