Article
SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.
Clinical and experimental dermatology - 1 Sept 2007
Zhao Y, Ma Z H, Yang Y, Yang S X, Wu L S, Ding B L, Lin Z M, Wang A P, Bu D F, Tu P
Abstract excerpt
Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI) protein. We observed microstructural changes and detected LEKTI activity and SPINK5 gene mutation in three Chinese patients with Netherton's syndrome. Decreased LEKTI activity was found in the skin of patients. Lamellar bodies and foci of...
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