Liu, W O

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