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Article

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

European journal of human genetics : EJHG - 1 Feb 2007

Gruber Robert, Janecke Andreas R, Fauth Christine, Utermann Gerd, Fritsch Peter O, Schmuth Matthias

Abstract excerpt

Ichthyosis vulgaris (IV) is the most common hereditary disorder of cornification in humans, characterized by generalized fine scaling of the skin, palmar hyperlinearity with or without keratosis pilaris and atopy. Recently, the molecular basis of IV was ascribed to loss-of-function mutations in the gene encoding filaggrin (FLG), namely p.R501X and c.2282del4. Homozygotes and compound heterozygotes were severely...

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PMID: 17164798
DOI: 10.1038/sj.ejhg.5201742

Genes

FLG

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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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Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.PMID 17164798Read ↗

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