The New Apolipoprotein A-I Variant Leu(174) → Ser Causes Hereditary Cardiac Amyloidosis, and the Amyloid Fibrils Are Constituted by the 93-Residue N-Terminal Polypeptide

We identified a novel missense mutation in the apolipoprotein A-I gene, T2069C Leu(174) → Ser, in a patient affected by familial systemic nonneuropathic amyloidosis. The amyloid deposits mostly affected the heart of the proband, who underwent transplantation for end-stage congestive heart failure. A...

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Detalhes bibliográficos
Main Authors: Obici, Laura, Bellotti, Vittorio, Mangione, Palma, Stoppini, Monica, Arbustini, Eloisa, Verga, Laura, Zorzoli, Irene, Anesi, Ernesto, Zanotti, Giuseppe, Campana, Carlo, Viganò, Mario, Merlini, Giampaolo
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 1999
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1866882/
https://ncbi.nlm.nih.gov/pubmed/10487826
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