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Article

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.

The Journal of investigative dermatology - 1 Jul 2008

Chen Huijia, Ho Jean C C, Sandilands Aileen, Chan Yuin Chew, Giam Yoke Chin, Evans Alan T, Lane E Birgitte, McLean W H Irwin

Abstract excerpt

Filaggrin is an abundant protein of the outer epidermis that is essential for terminal differentiation of keratinocytes and formation of an effective barrier against water loss and pathogen/allergen/irritant invasion. Recent investigations in Europe and Japan have revealed null mutations in the filaggrin gene (FLG) as the underlying cause of ichthyosis vulgaris (IV), a common skin disorder characterised by dry...

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Source

Identifiers

PMID: 18239616
DOI: 10.1038/sj.jid.2008.2

Genes

FLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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