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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Detalles Bibliográficos
Autores principales: Feng, Di, Steinke, Julia M., Krishnan, Ramaswamy, Birrane, Gabriel, Pollak, Martin R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5158186/
https://www.ncbi.nlm.nih.gov/pubmed/27977723
http://dx.doi.org/10.1371/journal.pone.0167467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5158186/
https://www.ncbi.nlm.nih.gov/pubmed/27977723
http://dx.doi.org/10.1371/journal.pone.0167467

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