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FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child
The identification of monogenic causes in patients with proteinuria has revealed that the encoded proteins functionally participate in distinct cellular tasks and signaling pathways in the slit diaphragms of the glomerular basement membrane. FAT1 is a member of a small family of vertebrate-cadherin-...
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| 發表在: | CEN Case Rep |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Singapore
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7829294/ https://ncbi.nlm.nih.gov/pubmed/32902815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00529-y |
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