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Laminin β2 Gene Missense Mutation Produces Endoplasmic Reticulum Stress in Podocytes
Mutations in the laminin β2 gene (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. LAMB2 is a component of the laminin-521 (α5β2γ1) trimer, an important constituent of the glomerular basement membrane (GBM). The C321R-LAMB2 missense mutation l...
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| Glavni autori: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society of Nephrology
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3736718/ https://ncbi.nlm.nih.gov/pubmed/23723427 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012121149 |
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