Article
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type.
Biochemical and biophysical research communications - 26 Feb 1993
Maury C P, Rossi H
Abstract excerpt
Familial amyloidosis, Finnish type (FAF), is a dominantly inherited form of systemic amyloidosis caused by a point mutation G654 to A654 in the gelsolin gene. The mutation leads to the expression of mutant Asn-187 gelsolin and the accumulation of amyloid in tissues. Here we demonstrate that patie...
Topics
- Alleles
- Amino Acid Sequence
- Amyloid
- Amyloidosis
- Asparagine
- Base Sequence
- Blotting, Western
- Calcium-Binding Proteins
- Chromatography, Affinity
- Codon
- Electrophoresis, Polyacrylamide Gel
- Finland
- Gelsolin
- Genetic Variation
- Humans
- Microfilament Proteins
- Molecular Sequence Data
- Molecular Weight