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Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa

Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the patho...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Sugitani, Hideki, Hirano, Eiichi, Knutsen, Russell H., Shifren, Adrian, Wagenseil, Jessica E., Ciliberto, Christopher, Kozel, Beth A., Urban, Zsolt, Davis, Elaine C., Broekelmann, Thomas J., Mecham, Robert P.
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Biochemistry and Molecular Biology 2012
الموضوعات:
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC3381164/
https://ncbi.nlm.nih.gov/pubmed/22573328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.327940
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