Identification of loss-of-function mutations in filaggrin causing ichthyosis vulgaris and predisposing to other diseases

摘要

The present invention relates to the identification of loss-of-function mutations in the filaggrin gene and their use in diagnosing ichthyosis vulgaris and/or susceptibility to other diseases including atopic dermatitis (eczema), asthma, psoriasis and allergies (including food allergy).