Article
Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77).
Journal of neurology - 1 Oct 1995
Reilly M M, Adams D, Davis M B, Said G, Harding A E
Abstract excerpt
Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder originally and most frequently described in Portugal. The usual constituent amyloid fibril protein is transthyretin (TTR) and the most frequent mutation in the TTR gene associated with FAP (including all Portuguese cases) is...
Topics
- Amyloid Neuropathies
- Base Sequence
- Europe
- France
- Genes, Dominant
- Haplotypes
- Humans
- Methionine
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Tyrosine
- United Kingdom
