Articles with "e61k mutation" as a keyword



Photo by fierysnake from unsplash

Clinical and pathological findings in familial amyloid polyneuropathy caused by a transthyretin E61K mutation

Sign Up to like & get
recommendations!
Published in 2017 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2017.08.017

Abstract: Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this… read more here.

Keywords: e61k mutation; amyloid polyneuropathy; ttr; familial amyloid ... See more keywords