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Article

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Science (New York, N.Y.) - 27 Jan 1995

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen S P, Ponec M, Bon A, Lautenschlager S, Schorderet D F, Hohl D

Abstract excerpt

Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene...

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Identifiers

PMID: 7824952
DOI: 10.1126/science.7824952

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