Article
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
The Journal of clinical investigation - 1 Aug 1994
Ståhl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L
Abstract excerpt
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue sympto...
Topics
- Adult
- Base Sequence
- Calcium
- Chromosomes, Human, Pair 15
- Cysteine
- Epidermal Growth Factor
- Fibrillin-1
- Fibrillins
- Genetic Linkage
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Mutation