LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
Article
Ong, C., O'Toole, E., Ghali, L., Malone, M., Smith, V., Callard, R. and Harper, J. 2004. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. British journal of dermatology. 151 (6), pp. 1253-1257. https://doi.org/10.1111/j.1365-2133.2004.06180.x
Type | Article |
---|---|
Title | LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. |
Authors | Ong, C., O'Toole, E., Ghali, L., Malone, M., Smith, V., Callard, R. and Harper, J. |
Abstract | Background Netherton syndrome (NS) is a rare autosomal recessive condition characterized by ichthyosiform erythroderma, trichorrhexis invaginata and atopic manifestations. Confirming the diagnosis may be difficult in the early stages. Mutations in the SPINK5 gene which encodes for the serine protease inhibitor LEKTI are associated with NS. These mutations create premature termination codons which result in absent or abnormal expression of LEKTI in patients with NS. |
Research Group | Biomarkers for Cancer group |
Publisher | Blackwell |
Journal | British journal of dermatology |
ISSN | 0007-0963 |
Publication dates | |
Dec 2004 | |
Publication process dates | |
Deposited | 19 Jun 2009 |
Output status | Published |
Additional information | PubMed PMID: 15606522. |
Digital Object Identifier (DOI) | https://doi.org/10.1111/j.1365-2133.2004.06180.x |
Language | English |
https://repository.mdx.ac.uk/item/81v0w
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