We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).
- Authors
Maury, C P; Liljeström, M; Boysen, G; Törnroth, T; de la Chapelle, A; Nurmiaho-Lassila, E L
- Abstract
Familial amyloidosis of the Finnish type (FAF, Finnish hereditary amyloidosis) is caused by a 654G-A mutation in the gelsolin gene on chromosome 9 resulting in the expression of mutant Asn-187 gelsolin which is abnormally proteolytically processed generating amyloidogenic fragments that polymerize into amyloid fibrils. We have recently shown that in a Danish and a Czech family with a clinical syndrome similar to FAF, including corneal lattice dystrophy, cranial neuropathy and skin changes, the disease is caused by another mutation at the same position, namely 654G-T predicting a Try-for-Asp substitution at 187 in secreted gelsolin.
- Publication
Journal of clinical pathology, 2000, Vol 53, Issue 2, p95
- ISSN
0021-9746
- Publication type
Journal Article
- DOI
10.1136/jcp.53.2.95