1 | KCNE3, LQT10, NCIE1, TGM1 |
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. | |
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. | |
Hum Mutat 30(4):537-47. Review. 2009 | |
2 | KCNE3, LQT10 |
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. | |
Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M. | |
Hum Mutat 30(4):557-63. 2009 | |