Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
Mutations in the human fibrillin-1 (FBN-1) gene cause Marfan syndrome (MFS), an autosomal dominant disease of connective tissue. Fibrillin-1, a 350 kDa extracellular calcium binding protein, is a major structural component of 10-12 nm microfibrils and consists predominantly of two repeated module ty...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2000
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