Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. [electronic resource]
Producer: 19930610Description: 366-74 p. digitalISSN:- 1059-7794
- Amino Acid Sequence
- Base Sequence
- Cysteine -- genetics
- DNA -- genetics
- DNA Mutational Analysis
- Epidermal Growth Factor -- genetics
- Fibrillin-1
- Fibrillins
- Humans
- Marfan Syndrome -- genetics
- Microfilament Proteins -- chemistry
- Molecular Sequence Data
- Molecular Structure
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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