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Article

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

European journal of human genetics : EJHG - 1 Jan 2000

Pigg M, Gedde-Dahl T, Cox D, Hausser I, Anton-Lamprecht I, Dahl N

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a clinically heterogeneous disorder of keratinisation. It was recently shown that mutations in the transglutaminase 1 (TGM1) gene may be associated with the clinical subtypes lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (CIE). Thirty-six Norwegian families with LI and seven with non-bullous CIE were studied with microsatellite...

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PMID: 9887377
DOI: 10.1038/sj.ejhg.5200224

Genes

TGM1

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