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Article

Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families.

Acta dermato-venereologica - 1 Jan 2008

Ekelund Elisabeth, Liedén Agne, Link Jenny, Lee Simon P, D'Amato Mauro, Palmer Colin N A, Kockum Ingrid, Bradley Maria

Abstract excerpt

Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema. In this study, representing the first analysis of the variants in a Swedish population, we analysed transmission in 406 multiplex eczema fami...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18176743
DOI: 10.2340/00015555-0383

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18176743-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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