Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. [electronic resource]
Producer: 19991012Description: 237-42 p. digitalISSN:- 1090-6576
- Chromatography, High Pressure Liquid
- Connective Tissue Diseases -- diagnosis
- DNA Mutational Analysis -- methods
- Evaluation Studies as Topic
- Exons -- genetics
- Fibrillin-1
- Fibrillins
- Frameshift Mutation
- Genetic Carrier Screening
- Genetic Testing -- methods
- Heteroduplex Analysis
- Humans
- Introns -- genetics
- Marfan Syndrome -- diagnosis
- Microfilament Proteins -- genetics
- Mutation
- Nucleic Acid Hybridization
- Point Mutation
- Polymorphism, Genetic
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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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