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

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

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 64, Issue 1, October 2011, Pages 72-75

Guo-long Zhang, Ming Li, Xu-feng Du, He-jian Shi, Min-hua Shao, Hui-jun Mu, Yong Gu, Shu-dong Yang,