A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. [electronic resource]
Producer: 19970710Description: 1389-98 p. digitalISSN:- 0002-9297
- Adult
- Aged
- Alternative Splicing
- Base Sequence
- Calcium-Binding Proteins -- biosynthesis
- Child
- Connective Tissue Diseases -- congenital
- Contracture -- congenital
- DNA Primers
- Female
- Fibrillin-2
- Fibrillins
- Genes, Dominant
- Genetic Linkage
- Humans
- Male
- Microfilament Proteins -- biosynthesis
- Middle Aged
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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