Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome
Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome
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Author / Creator
Hachem, Jean-Pierre , Wagberg, Fredrik , Schmuth, Matthias , Crumrine, Debra , Lissens, Willy , Jayakumar, Arumugam , Houben, Evi , Mauro, Theodora M. , Leonardsson, Göran , Brattsand, Maria , Egelrud, Torbjorn , Roseeuw, Diane , Clayman, Gary L. , Feingold, Kenneth R. , Williams, Mary L. and Elias, Peter M.
Publisher
United States: Elsevier Inc
Journal title
Language
English
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Publisher
United States: Elsevier Inc
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Contents
Mutations in the SPINK5 gene encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS), a life-threatening disease, owing to proteolysis of the stratum corneum (SC). We assessed here the basis for phenotypic variations in nine patients with “mild”, “moderate”, and “severe” NS. The ma...
Alternative Titles
Full title
Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome
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Record Identifier
TN_cdi_swepub_primary_oai_DiVA_org_umu_6741
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_DiVA_org_umu_6741
Other Identifiers
ISSN
0022-202X,1523-1747
E-ISSN
1523-1747
DOI
10.1038/sj.jid.5700288
