A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

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Published in Am J Hum Genet on October 11, 2005

Authors

Andrew J Cassidy1, Maurice A M van Steensel, Peter M Steijlen, Michel van Geel, Jaap van der Velden, Susan M Morley, Alessandro Terrinoni, Gerry Melino, Eleonora Candi, W H Irwin McLean

Author Affiliations

1: Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, United Kingdom.

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