1 | TGM5, APSS |
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. | |
Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. | |
Am J Hum Genet 77(6):909-17. Epub 2005 Oct 11. 2005 | |