Laminin β(2) variants associated with isolated nephropathy that impact matrix regulation

Mutations in LAMB2, encoding laminin β(2), cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities. The most deleterious missense mutations that have been identified affect primarily the N-terminus of laminin β(2). On the other hand, those associated with isolated...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Kikkawa, Yamato, Hashimoto, Taeko, Takizawa, Keiichi, Urae, Seiya, Masuda, Haruka, Matsunuma, Masumi, Yamada, Yuji, Hamada, Keisuke, Nomizu, Motoyoshi, Liapis, Helen, Hisano, Masataka, Akioka, Yuko, Miura, Kenichiro, Hattori, Motoshi, Miner, Jeffrey H., Harita, Yutaka
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8026196/
https://ncbi.nlm.nih.gov/pubmed/33749661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.145908
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados