Article
Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease.
Journal of dermatological science - 1 Jul 2001
Takahashi H, Atsuta Y, Sato K, Ishida-Yamamoto A, Suzuki H, Iizuka H
Abstract excerpt
Darier's disease (DD) is a rare, dominantly inherited skin disorder with abnormal keratinization and acantholysis. Recently, mutations of ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)-ATPase type 2 isoform (SERCA2) have been reported in Caucasian DD families. In the present study, we examined the ATP2A2 gene mutations of three sporadic (AS1,AS3,AS4) and one familial (AS2) Japanese DD patients. Sequence...
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