In Vivo Studies of Mutant Fibrillin-1 Microfibrils

In humans, mutations in fibrillin-1 result in a variety of genetic disorders with distinct clinical phenotypes. While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome. Pathogenesis of Marfan syndrome...

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Hlavní autoři: Charbonneau, Noe L., Carlson, Eric J., Tufa, Sara, Sengle, Gerhard, Manalo, Elise C., Carlberg, Valerie M., Ramirez, Francesco, Keene, Douglas R., Sakai, Lynn Y.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2010
Témata:
Glycobiology and Extracellular Matrices
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2915730/
https://ncbi.nlm.nih.gov/pubmed/20529844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.130021
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