Article
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.
The Journal of clinical investigation - 15 Jun 1996
Booth D R, Tan S Y, Booth S E, Tennent G A, Hutchinson W L, Hsuan J J, Totty N F, Truong O, Soutar A K, Hawkins P N, Bruguera M, Caballería J, Solé M, Campistol J M, Pepys M B
Abstract excerpt
We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues,...
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