Article
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.
The Journal of clinical investigation - 1 Apr 1991
Maury C P
Abstract excerpt
The Finnish type of familial amyloidosis is a systemic disease characterized by progressive cranial neuropathy, corneal lattice dystrophy, and distal sensimotor neuropathy. Amyloid fibrils were isolated from the kidney and heart of a patient with Finnish amyloidosis. After solubilization, the amyloid proteins were fractionated by gel filtration and purified by reverse-phase HPLC. Complete amino acid sequence...
Topics
- Amino Acid Sequence
- Amyloidosis
- Calcium-Binding Proteins
- Finland
- Gelsolin
- Humans
- Kidney
- Microfilament Proteins
- Molecular Sequence Data
- Molecular Weight
- Mutation
