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

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 fibrinogen Aα-chain frameshift variant, Phe521Leufs, causi...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Garnier, Cyrille, Briki, Fatma, Nedelec, Brigitte, Le Pogamp, Patrick, Dogan, Ahmet, Rioux-Leclercq, Nathalie, Goude, Renan, Beugnet, Caroline, Martin, Laurent, Delpech, Marc, Bridoux, Frank, Grateau, Gilles, Doucet, Jean, Derreumaux, Philippe, Valleix, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2017
Assuntos:
Thrombosis and Hemostasis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5843806/
https://ncbi.nlm.nih.gov/pubmed/29089309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2017-07-796185
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