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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:JCI Insight
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2021
Onderwerpen:
Research Article
Online toegang: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: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items