Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013210.pdf
Reference16 articles.
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2. Segade F : Molecular evolution of the fibulins: implications on the functionality of the elastic fibulins. Gene 464: 17–31.
3. Cooley MA, Kern CB, Fresco VM et al: Fibulin-1 is required for morphogenesis of neural crest-derived structures. Dev Biol 2008; 319: 336–345.
4. Debeer P, Schoenmakers EF, Twal WO et al: The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet 2002; 39: 98–104.
5. Appella E, Weber IT, Blasi F : Structure and function of epidermal growth factor-like regions in proteins. FEBS Lett 1988; 231: 1–4.
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