Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature. This is in contrast to mutations within a heparin-binding TB domain (TB5),...

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Detalles Bibliográficos
Autores principales: Cain, Stuart A., McGovern, Amanda, Baldwin, Andrew K., Baldock, Clair, Kielty, Cay M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487758/
https://www.ncbi.nlm.nih.gov/pubmed/23133647
http://dx.doi.org/10.1371/journal.pone.0048634

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487758/
https://www.ncbi.nlm.nih.gov/pubmed/23133647
http://dx.doi.org/10.1371/journal.pone.0048634

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