Hereditary Amyloidosis: insights into a fibrinogen A variant protein

Abstract excerpt

Amyloidosis are a group of diseases in which soluble proteins aggregate and deposit in fibrillar conformation extracellularly in tissues. The effectiveness of therapeutic strategies depends on the specific protein involved, being crucial to accurately determine its nature. Moreover, following the diagnosis, the search for the mutation within relatives allows the clinical advice. Here we report the precise diagnosi...

Topics

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• Afibrinogenemia
• Amyloidosis: Diagnosis, Treatment, Outcomes
• Amyloidosis, Familial
• Exome Sequencing
• Fibrinogen
• Models, Molecular
• Mutation
• Protein Conformation, beta-Strand

Identifiers and source

Literature Corpus work

75e2f2d6-846c-59fc-9b63-c31394485335

DOI

10.22541/au.171804763.37967262/v1