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Marfan Syndrome Mutations Predominantly Alter Fibrillin Domain Folding

โœ Scribed by Lu, Yaxin; Jeremy, Richmond; Kekic, Murat; Yin, Jianlin; Hambly, Brett D.


Book ID
122787000
Publisher
Biophysical Society
Year
2012
Tongue
English
Weight
43 KB
Volume
102
Category
Article
ISSN
0006-3495

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Fibrillin-1 mutations in Marfan syndrome
โœ Caroline Hayward; David J. H. Brock ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 183 KB ๐Ÿ‘ 1 views

Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically va