Article
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene.
Genomics - 15 Mar 2001
Benson M D, Liepnieks J J, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B
Abstract excerpt
Hereditary systemic amyloidosis may be caused by mutations in a number of plasma proteins including transthyretin, apolipoprotein AI, fibrinogen Aalpha-chain, lysozyme, and gelsolin. Each type of amyloidosis is inherited as an autosomal dominant disease and is associated with a structurally altered protein that aggregates to form amyloid fibrils. Here we report that the amyloid protein in a family with previously...
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