A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. [electronic resource]
Producer: 19950605Description: 2373-8 p. digitalISSN:- 0021-9738
- Adolescent
- Adult
- Aged
- Alleles
- Amino Acid Sequence
- Base Sequence
- Body Height
- Cells, Cultured
- DNA Primers
- Exons
- Extracellular Matrix -- pathology
- Extracellular Matrix Proteins -- biosynthesis
- Female
- Fibrillin-1
- Fibrillins
- Fibroblasts -- pathology
- Humans
- Male
- Marfan Syndrome -- genetics
- Microfilament Proteins -- biosynthesis
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Protein Precursors -- genetics
- Protein Processing, Post-Translational
- Protein Sorting Signals -- chemistry
- Sequence Homology, Amino Acid
- Skin -- metabolism
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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