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

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...

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Veröffentlicht in:	European journal of human genetics : EJHG 2007-02, Vol.15 (2), p.179-184
Hauptverfasser:	Gruber, Robert, Janecke, Andreas R, Fauth, Christine, Utermann, Gerd, Fritsch, Peter O, Schmuth, Matthias
Format:	Artikel
Sprache:	eng
Schlagworte:	Atopy Austria Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Blood & organ donations Cytogenetics Deoxyribonucleic acid Dermatitis Dermatology DNA Dyskeratosis Female Filaggrin Fundamental and applied biological sciences. Psychology Gene Expression Gene Frequency General aspects. Genetic counseling Genetic testing Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Heredity Heterozygote Heterozygotes Homozygote Homozygotes Human Genetics Humans Ichthyosis Ichthyosis Vulgaris - genetics Ichthyosis Vulgaris - pathology Immunohistochemistry Intermediate Filament Proteins - analysis Intermediate Filament Proteins - genetics Keratosis Male Medical genetics Medical sciences Molecular and cellular biology Mutation Pedigree Phenotype Phenotypes Scaling Skin Skin - chemistry Skin - pathology
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