Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
CHSY1（一种分泌型 FRINGE 酶）的缺失会通过增加 NOTCH 信号导致人类综合征性短指症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.11.005
Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F Nelson, Simon Cool, Osama H Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade
