Article
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.
Genetics and molecular research : GMR - 4 Jan 2013
Zhang G L, Shi H J, Shao M H, Li M, Mu H J, Gu Y, Du X F, Xie P
Abstract excerpt
We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion,...
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