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Article

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

The Journal of molecular diagnostics : JMD - 1 May 2009

Eriksson Magdalena, Schönland Stefan, Yumlu Saniye, Hegenbart Ute, von Hutten Hanna, Gioeva Zarina, Lohse Peter, Büttner Janine, Schmidt Hartmut, Röcken Christoph

Abstract excerpt

Apolipoprotein AI-derived (AApoAI) amyloidosis may present either as a non-hereditary form with wild-type protein deposits in atherosclerotic plaques or as a hereditary form due to germline mutations in the APOA1 gene. Currently, more than 50 apoAI variants are known, and 13 are associated with amyloidosis. We describe six patients with AApoAI amyloidosis due to APOA1 germline mutations that affect the larynx,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19324996
DOI: 10.2353/jmoldx.2009.080161
PMCID: PMC2671344

Genes

APOA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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