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Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome
Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin β2 (LAMB2), a major component of the glomerular basement membrane (GBM). Pathogenic missense mutations in human LAMB2 cluster in or near the laminin amino-terminal (LN) domain, a domain...
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| Publicado no: | J Am Soc Nephrol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Nephrology
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5827610/ https://ncbi.nlm.nih.gov/pubmed/29263159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2017090997 |
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