Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris
Open Access
- 13 December 2006
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 15 (2) , 179-184
- https://doi.org/10.1038/sj.ejhg.5201742
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Dominant ichthyosis vulgaris with an ultrastructuraally normal granular layerClinical Genetics, 2008
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisNature Genetics, 2006
- Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisNature Genetics, 2006
- Primary hereditary ichthyoses in the Eastern Province of Saudi ArabiaInternational Journal of Dermatology, 2004
- CorrespondenceInternational Journal of Dermatology, 1999
- Atopic Dermititis and Ichthyosis VulgarisPediatrics in Review, 1994
- Atopic Dermatitis – Ichthyosis vulgaris – Hyperlinear Palms – an Ultrastructural StudyDermatology, 1989
- X-linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysisBritish Journal of Dermatology, 1988
- Ichthyosis Vulgaris: Identification of a Defect in Synthesis of Filaggrin Correlated with an Absence of Keratohyaline GranulesJournal of Investigative Dermatology, 1985
- The Granular Layer Thickness in Atopy and Ichthyosis VulgarisJournal of Investigative Dermatology, 1970