Article
[Amyloid polyneuropathies--biochemical and genetic aspects].
Bulletin de l'Academie nationale de medecine - 1 Oct 2012
Delpech Marc, Valleix Sophie
Abstract excerpt
Familial amyloid polyneuropathies (FAP) are among the most frequent hereditary amyloidoses. These are serious, most often fatal diseases with autosomal dominant inheritance. FAP can be caused by mutations in four genes, namely those encoding transthyretin, Al-apoliprotein, gelsolin, and beta-2 microglobulin. Transthyretin is a tetramer composed of four identical subunits linked by non covalent bonds and bearing...
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