Article
Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.
The EMBO journal - 1 Feb 1993
Thylén C, Wahlqvist J, Haettner E, Sandgren O, Holmgren G, Lundgren E
Abstract excerpt
The finding of individuals homozygous for FAP I (familial amyloidotic polyneuropathy, transthyretin TTRMet30) with amyloid deposits in the vitreous body, gave us access to a unique material lacking wild type transthyretin and contaminating proteins. Amyloid TTR is modified in several ways. Beside...
Topics
- Amino Acid Sequence
- Amyloid
- Amyloidosis
- Disulfides
- Heterozygote
- Homozygote
- Humans
- Methionine
- Methylation
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length
- Prealbumin
- Vitreous Body