Article
Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 1999
Palácios S A, Bittencourt P L, Cançado E L, Farias A Q, Massarollo P C, Mies S, Kalil J, Goldberg A C
Abstract excerpt
UNLABELLED: Familial amyloidotic polyneuropathy type 1 (FAP1) is an inherited systemic amyloidosis that is secondary to the deposition of transthyretin (TTR) variants in peripheral nerves and in certain visceral organs. More than 50 distinct mutations have already been described in the TTR gene. Yet, the most common mutation found worldwide is a substitution of valine for methionine in position 30 (Val30Met)....
Topics
- Adult
- Amyloid Neuropathies
- Brazil
- Female
- Heterozygote
- Humans
- Leukocytes
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length