लोड हो रहा है...
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...
में बचाया:
| में प्रकाशित: | PLoS One |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Public Library of Science
2016
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| विषय: | |
| ऑनलाइन पहुंच: | 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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