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A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin Secretion

Laminin β2 is a component of laminin-521, which is an important constituent of the glomerular basement membrane (GBM). Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. In contrast, patients with LAMB2 missense mut...

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Bibliografiske detaljer
Main Authors: Chen, Ying Maggie, Kikkawa, Yamato, Miner, Jeffrey H.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083307/
https://ncbi.nlm.nih.gov/pubmed/21511833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2010060632
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