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Article

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.

Clinical and experimental dermatology - 1 Dec 2009

Cao X, Lin Z, Yang H, Bu D, Tu P, Chen L, Wu H, Yang Y

Abstract excerpt

BACKGROUND: Autosomal recessive lamellar ichthyosis (LI) is a severe skin disorder characterized by generalized hyperkeratosis. Gene mutation in transglutaminase 1 (TGM1), which mediates cross-links in the formation of the cell envelope during terminal differentiation of epidermis, has been identified as a cause of LI. OBJECTIVES: To determine mutations of TGM1 gene in three Chinese families with LI. METHODS: The...

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Source

Identifiers

PMID: 19486042
DOI: 10.1111/j.1365-2230.2009.03288.x

Genes

TGM1

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