Article
A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
Journal of medical genetics - 1 Feb 1993
Benson M D, Julien J, Liepnieks J, Zeldenrust S, Benson M D
Abstract excerpt
A transthyretin mutation was discovered in a French family with familial amyloidotic polyneuropathy originally described in 1983. The syndrome is of early onset (approximate age 35 to 40) with carpal tunnel syndrome. Death is from cardiac disease. By direct genomic DNA sequencing an A-->G mutatio...
Topics
- Adult
- Amino Acid Sequence
- Amyloidosis
- Base Sequence
- DNA
- DNA Mutational Analysis
- Female
- Genetic Variation
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Peripheral Nervous System Diseases
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prealbumin