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Article

Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease.

Circulation research - 31 Aug 2007

Hirano Eiichi, Knutsen Russell H, Sugitani Hideki, Ciliberto Christopher H, Mecham Robert P

Abstract excerpt

Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa). Modeling these diseases in mice is problematic because of s...

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Identifiers

PMID: 17626896
DOI: 10.1161/CIRCRESAHA.107.153510

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17626896-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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