Article
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
Nature genetics - 1 Oct 1992
de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury C P, Kere J
Abstract excerpt
Dominantly inherited familial amyloidosis, Finnish type (FAF) is caused by the accumulation of a 71-amino acid amyloidogenic fragment of mutant gelsolin (GSN). FAF is common in Finland but is very rare elsewhere. In Finland and in two American families, the mutation is a G654A transition leading...
Topics
- Alleles
- Amino Acid Sequence
- Amyloidosis
- Base Sequence
- Calcium-Binding Proteins
- DNA
- DNA Mutational Analysis
- Female
- Gelsolin
- Genes, Dominant
- Haplotypes
- Humans
- Male
- Microfilament Proteins
- Molecular Sequence Data
- Pedigree
- Point Mutation