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A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Am J Hum Genet. 2005 Dec;77(6):909-17. doi: 10.1086/497707. Epub 2005 Oct 11.
Am J Hum Genet. 2005.
PMID: 16380904
Free PMC article.
Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primers.
Aeschlimann D, Koeller MK, Allen-Hoffmann BL, Mosher DF.
Aeschlimann D, et al.
J Biol Chem. 1998 Feb 6;273(6):3452-60. doi: 10.1074/jbc.273.6.3452.
J Biol Chem. 1998.
PMID: 9452468
Free article.
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