Structural Effects of Fibulin 5 Missense Mutations Associated with Age-Related Macular Degeneration and Cutis Laxa

PURPOSE. AMD has a complex etiology with environmental and genetic risk factors. Ten fibulin 5 sequence variants have been associated with AMD and two other fibulin 5 mutations cause autosomal-recessive cutis laxa. Fibulin 5 is a 52-kDa calcium-binding epidermal growth factor (cbEGF)–rich extracellu...

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Main Authors: Jones, Richard P. O., Ridley, Caroline, Jowitt, Thomas A., Wang, Ming-Chuan, Howard, Marjorie, Bobola, Nicoletta, Wang, Tao, Bishop, Paul N., Kielty, Cay M., Baldock, Clair, Lotery, Andrew J., Trump, Dorothy
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2868478/
https://ncbi.nlm.nih.gov/pubmed/20007835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-4620
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