Article
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2013
González-Duarte Alejandra, Lem-Carrillo Mónica, Cárdenas-Soto Karla
Abstract excerpt
OBJECTIVE: To describe 58 subjects with rare TTR mutations, and to compare the different biomarkers between carriers and patients. METHODS: TTR gene sequence test was performed in 15 suspicious subjects and in their direct family. All positive subjects undertook prospective evaluations in a period of 49 months. RESULTS: Of 95 genetic tests performed, 58 (61%) were positive for TTR mutations, Ser50Arg mutation in...
Topics
- Adult
- Amyloid Neuropathies, Familial
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Prealbumin