Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation

Kindler syndrome is an autosomal recessive disorder characterized by skin atrophy and blistering. It results from loss-of-function mutations in the FERMT1 gene encoding the focal adhesion protein, fermitin family homolog-1. How and why deficiency of fermitin family homolog-1 results in skin atrophy...

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Главные авторы: Lai-Cheong, Joey E., Parsons, Maddy, Tanaka, Akio, Ussar, Siegfried, South, Andrew P., Gomathy, Sethuraman, Mee, John B., Barbaroux, Jean-Baptiste, Techanukul, Tanasit, Almaani, Noor, Clements, Suzanne E., Hart, Ian R., McGrath, John A.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Investigative Pathology 2009
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Regular Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2751540/
https://ncbi.nlm.nih.gov/pubmed/19762710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2009.081154
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