Article
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
Circulation - 15 Feb 1995
Booth D R, Tan S Y, Hawkins P N, Pepys M B, Frustaci A
Abstract excerpt
BACKGROUND: Amyloidosis is a disorder of protein metabolism characterized by extracellular accumulation of abnormal protein fibrils. Different proteins form the fibrils in different forms of the disease, and the condition can be acquired or hereditary. Involvement of the heart is quite common, pr...
Topics
- Amyloidosis
- Angina Pectoris
- Cardiomyopathies
- DNA
- Exons
- Female
- Genes, Dominant
- Genetic Variation
- Humans
- Italy
- Lysine
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction