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Article

A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.

European journal of medical genetics - 1 Sept 2016

Tougaard Birgitte G, Pedersen Katja Venborg, Krag Søren Rasmus, Gilbertson Janet A, Rowczenio Dorota, Gillmore Julian D, Birn Henrik

Abstract excerpt

Apolipoprotein A-I (apo A-I) amyloidosis is a non-AL, non-AA, and non-transthyretin type of amyloidosis associated with mutations in the APOA1 gene inherited in an autosomal dominant fashion. It is a form of systemic amyloidosis, but at presentation, can also mimic localized amyloidosis. The renal presentation generally involves interstitial and medullary deposition of apo A-I amyloid protein. We describe the...

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Identifiers

PMID: 27240838
DOI: 10.1016/j.ejmg.2016.05.015

Genes

APOA1

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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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