Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. [electronic resource]
Producer: 19981020Description: 350-5 p. digitalISSN:- 0148-7299
- Adult
- Alleles
- Amino Acid Substitution
- Child
- Contracture -- genetics
- Exons -- genetics
- Female
- Fibrillin-1
- Fibrillin-2
- Fibrillins
- Fibroblasts
- Genes, Dominant
- Genetic Testing
- Humans
- Infant
- Male
- Marfan Syndrome -- embryology
- Microfilament Proteins -- genetics
- Middle Aged
- Mosaicism
- Mutation
- Polymorphism, Single-Stranded Conformational
- Scoliosis
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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