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.
作者信息
Zhang Guo-Long, Li Ming, Du Xu-Feng, Shi He-Jian, Shao Min-Hua, Mu Hui-Jun, Gu Yong, Yang Shu-Dong
出版信息
J Dermatol Sci. 2011 Oct;64(1):72-5. doi: 10.1016/j.jdermsci.2011.06.014. Epub 2011 Jul 6.
Abstract
摘要
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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.在中国一名患有严重 Darier 病的患者中，ATP2A2 基因第 18 内含子供体剪接位点出现一个新的点突变，导致 27 个核苷酸插入成熟 mRNA 中。
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