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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026196/
https://www.ncbi.nlm.nih.gov/pubmed/33749661
http://dx.doi.org/10.1172/jci.insight.145908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026196/
https://www.ncbi.nlm.nih.gov/pubmed/33749661
http://dx.doi.org/10.1172/jci.insight.145908

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