Articles with "phe521leufs" as a keyword



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VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

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Published in 2017 at "Blood"

DOI: 10.1182/blood-2017-07-796185

Abstract: The first case of hereditary fibrinogen Aα-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a novel amyloidogenic… read more here.

Keywords: chain; fibrinogen chain; chain frameshift; phe521leufs ... See more keywords