Article
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 1998
Kiuru S
Abstract excerpt
Gelsolin-related familial amyloidosis, Finnish type, occurs worldwide, most likely as a result of sporadic low-frequency mutations. Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic ma...
Topics
- Amyloid
- Amyloid Neuropathies
- Female
- Genes, Dominant
- Humans
- Male
- Mutation
- Peptide Fragments
