| Literature DB >> 10835624 |
S Chavanas1, C Bodemer, A Rochat, D Hamel-Teillac, M Ali, A D Irvine, J L Bonafé, J Wilkinson, A Taïeb, Y Barrandon, J I Harper, Y de Prost, A Hovnanian.
Abstract
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.Entities:
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Year: 2000 PMID： 10835624 DOI： 10.1038/75977
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330