Gene polymorphism in Netherton and common atopic disease.

Journal article

Atopic dermatitis (AD) and asthma are characterized by IgE-mediated atopic (allergic) responses to common proteins (allergens), many of which are proteinases. Loci influencing atopy have been localized to a number of chromosomal regions, including the chromosome 5q31 cytokine cluster. Netherton disease is a rare recessive skin disorder in which atopy is a universal accompaniment. The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine proteinase inhibitor (LEKTI) which is ex...

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Authors: Walley, A; Chavanas, S; Moffatt, M; Esnouf, R; Ubhi, B

• Publication status: Published
• Journal: Nature genetics
• Volume: 29
• Issue: 2
• Pages: 175-178
• Publication date: 2001-10-01
• DOI: 10.1038/ng728
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: DNA Primers; Carrier Proteins; Humans; Dermatitis, Atopic; Molecular Sequence Data; Proteinase Inhibitory Proteins, Secretory; Serine Proteinase Inhibitors; Polymorphism, Single Nucleotide; Sequence Homology, Amino Acid; Amino Acid Sequence; Asthma; Base Sequence