Article
Mutation in gelsolin gene in Finnish hereditary amyloidosis.
The Journal of experimental medicine - 1 Dec 1990
Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B
Abstract excerpt
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the...
Topics
- Amino Acid Sequence
- Amyloidosis
- Base Sequence
- Calcium-Binding Proteins
- DNA
- Finland
- Gelsolin
- Genes
- Humans
- Lymphocytes
- Microfilament Proteins
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction