Fibrillin mutations in Marfan syndrome and related phenotypes
โ 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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๐ SIMILAR VOLUMES
Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBNI) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormali
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