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Article

Consequences of Seven Novel Mutations on the Expression and Structure of Keratinocyte Transglutaminase

1 Aug 1997

Abstract excerpt

We report the molecular characterization of seven new keratinocyte transglutaminase mutations (R315C, S358R, V379L, G473S, R687C, deletion Delta679-696, R127Stop) found in lamellar ichthyosis patients. Arg-315, Ser-358, Val-379, and Gly-473 are highly conserved residues in transglutaminases while Arg-687 and Delta679-696 are not. All mutations strongly decreased transglutaminase activity and protein levels. The...

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PMID: 9261103
DOI: 10.1074/jbc.272.34.21018

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Source receipt: pubmed, retrieved 7 Sept 2026.

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