A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease

作者:Zhang, Guo long*; Li, Ming; Du, Xu feng; Shi, He jian; Shao, Min hua; Mu, Hui jun; Gu, Yong; Yang, Shu dong
来源:Journal of Dermatological Science, 2011, 64(1): 72-75.
DOI:10.1016/j.jdermsci.2011.06.014