Article
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
FEBS letters - 10 Dec 1990
Maury C P, Kere J, Tolvanen R, de la Chapelle A
Abstract excerpt
The amyloid protein in Finnish hereditary amyloidosis is a fragment of the actin-filament binding region of a variant gelsolin molecule. Here we demonstrate, using polymerase chain reaction and allele-specific oligonucleotide hybridization analyses of genomic DNA, a single base mutation (G654----A654) in the gelsolin gene segment encoding the amyloid protein. The mutation is responsible for the expression of the...
Topics
- Amyloidosis
- Base Sequence
- Blood Platelets
- Calcium-Binding Proteins
- Female
- Finland
- Gelsolin
- Genes
- Genetic Variation
- Humans
- Male
- Microfilament Proteins