Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)

Published: Aug 19, 2005
Abstract
Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH. This...
Paper Details
Title
Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)
Published Date
Aug 19, 2005
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