Article
Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications.
Laboratory investigation; a journal of technical methods and pathology - 1 Oct 1997
Maury C P, Sletten K, Totty N, Kangas H, Liljeström M
Abstract excerpt
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant type of systemic amyloidosis caused by a G654A (Asn-187) or G654T (Tyr-187) mutation in the gelsolin gene. Herein we show that patients with the Asn-187 gelsolin mutation have, in addition to full-sized gelsolin, a series of...
Topics
- Amino Acid Sequence
- Amyloid beta-Protein Precursor
- Amyloidosis
- Antibodies, Monoclonal
- Blotting, Western
- Chromatography, Affinity
- Gelsolin
- Heterozygote
- Homozygote
- Humans
- Models, Biological
- Molecular Sequence Data
- Mutation