Integrin α(3) Mutations with Kidney, Lung, and Skin Disease

Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier fun...

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Detalhes bibliográficos
Main Authors: Has, Cristina, Spartà, Giuseppina, Kiritsi, Dimitra, Weibel, Lisa, Moeller, Alexander, Vega-Warner, Virginia, Waters, Aoife, He, Yinghong, Anikster, Yair, Esser, Philipp, Straub, Beate K., Hausser, Ingrid, Bockenhauer, Detlef, Dekel, Benjamin, Hildebrandt, Friedhelm, Bruckner-Tuderman, Leena, Laube, Guido F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341404/
https://ncbi.nlm.nih.gov/pubmed/22512483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1110813
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