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A novel missense mutation inDSRADin a family with dyschromatosis symmetrica hereditaria

โœ Scribed by Ming Li; Li-Jia Yang; Yi-Xin Shi; Hong-Yu Huang

Publisher
Springer-Verlag
Year
2007
Tongue
English
Weight
229 KB
Volume
299
Category
Article
ISSN
0340-3696

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Dystonia, mental deterioration, and dysc
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
โœ Kana Tojo; Yoshiki Sekijima; Tamio Suzuki; Noriyuki Suzuki; Yasushi Tomita; Kuni ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 112 KB

## 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