Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1
Author:
Affiliation:
1. Department of Dermatology; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho, Showa-ku Nagoya 466-8550 Japan
2. Division of Dermatology; Kanazawa Medical University Himi Municipal Hospital; 1130 Kurakawa Himi 935-8531 Japan
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.15076/fullpdf
Reference10 articles.
1. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria;Miyamura;Am J Hum Genet,2003
2. Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families;Kono;Int J Dermatol,2014
3. Dyschromatosis symmetrica hereditaria and aicardi-goutieres syndrome 6 are phenotypic variants caused by ADAR1 mutations;Kono;J Invest Dermatol,2016
4. Dyschromatosis symmetrica hereditaria associated with neurological disorders;Kondo;J Dermatol,2008
5. Mechanism of interferon action: functionally distinct RNA-binding and catalytic domains in the interferon-inducible, double-stranded RNA-specific adenosine deaminase;Liu;J Virol,1996
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2. Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria;Indian Journal of Dermatology;2022-07
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