Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.
双等位基因 GLTP 突变通过破坏表皮葡糖基神经酰胺的转运,导致非综合征性表皮分化障碍。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI198835
Zhang Zeqiao, Huang Shimiao, Jackson Adam, Jones Elizabeth A, Banka Siddharth, Yang Chao, Zhao Sisi, Lv Kunlun, Peng Sha, Lin Zhimiao, Wang Huijun