Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

The Journal of Dermatology, EarlyView.

Source: The Journal of Dermatology - October 10, 2018 Category: Dermatology Authors: Masae Takeda, Toshifumi Nomura, Takato Sugiyama, Toshinari Miyauchi, Shotaro Suzuki, Yasuyuki Fujita, Hiroshi Shimizu Source Type: research