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Identification of a novel mutation in theDSRADgene in a Chinese pedigree with dyschromatosis symmetrica hereditaria

✍ Scribed by Yong Cui; Jun Wang; Sen Yang; Min Gao; Jian-Jun Chen; Kai-Lin Yan; Feng-Li Xiao; Wei Huang; Xue-Jun Zhang

Publisher: Springer-Verlag
Year: 2005
Tongue: English
Weight: 213 KB
Volume: 296
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s00403-005-0546-z

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## Abstract A family with dystonia associated with dyschromatosis symmetrica hereditaria (DSH), mental deterioration, and tissue calcification is described. The proband possessed an adenosine deaminase acting on the RNA 1 gene (__ADAR1__) mutation Gly1007Arg. This __ADAR1__ mutation could disturb R