Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Chen, Ying Maggie, Kikkawa, Yamato, Miner, Jeffrey H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Nephrology 2011
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !