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Fibrillin mutations in Marfan syndrome and related phenotypes

โœ Scribed by Francesco Ramirez


Book ID
117655164
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
669 KB
Volume
6
Category
Article
ISSN
0959-437X

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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