Article
Transthyretin mutations in health and disease.
Human mutation - 1 Jan 1995
Saraiva M J
Abstract excerpt
To date, over 40 different mutations in transthyretin (TTR) have been associated with amyloid deposition. The major unresolved problem is the correlation between the clinical heterogeneity and the genetic heterogeneity. For instance, whereas some mutations produce neuropathy and some give rise to cardiomyopathy, others produce vitreous opacities, the vast majority being neuropathic. Moreover, some mutations are...
Topics
- Alleles
- Amyloidosis
- Chromosomes, Human, Pair 18
- Female
- Gene Frequency
- Genetic Heterogeneity
- Humans
- Male
- Mutation
- Prealbumin
- Protein Structure, Tertiary