Mutation G827R in Matriptase Causing Autosomal Recessive Ichthyosis with Hypotrichosis Yields an Inactive Protease

Antoine Desilets, Francois Beliveau, Guillaume Vandal, Francois-Olivier McDuff, Pierre Lavigne and Richard Leduc

The Journal of Biological Chemistry 283 ( 16 ): 10535 - 10542 , 2008