Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. [electronic resource]
- European journal of human genetics : EJHG Feb 2007
- 179-84 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1018-4813
10.1038/sj.ejhg.5201742 doi
Austria Female Filaggrin Proteins Gene Frequency Heterozygote Homozygote Humans Ichthyosis Vulgaris--genetics Intermediate Filament Proteins--analysis Male Mutation Pedigree Phenotype Skin--chemistry