Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. [electronic resource]
- Genetic testing
- 237-42 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1090-6576
10.1089/gte.1997.1.237 doi
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