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
J Dermatol Sci
.
2011 Oct;64(1):72-5.
doi: 10.1016/j.jdermsci.2011.06.014.
Epub 2011 Jul 6.
Authors
Guo-Long Zhang
,
Ming Li
,
Xu-Feng Du
,
He-Jian Shi
,
Min-Hua Shao
,
Hui-Jun Mu
,
Yong Gu
,
Shu-Dong Yang
PMID:
21784620
DOI:
10.1016/j.jdermsci.2011.06.014
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
Comment
MeSH terms
Calcium-Transporting ATPases / genetics*
Darier Disease / genetics*
Female
Humans
Male
Mutation*
Substances
Calcium-Transporting ATPases