Article
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
Biochemical and biophysical research communications - 31 Aug 1992
Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T
Abstract excerpt
We detected a point mutation in the transthyretin (TTR) gene in a patient with familial cardiac amyloidosis by using PCR-DCP (DNA conformation polymorphism) analysis that is based on the diversity in electrophoretic mobility of single-stranded DNAs and/or heteroduplex DNAs in PCR products. The PC...
Topics
- Amyloidosis
- Base Sequence
- Cardiomyopathies
- Cloning, Molecular
- DNA
- Electrophoresis, Polyacrylamide Gel
- Humans
- Isoleucine
- Japan
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Prealbumin