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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: suzuki t. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Dermoscopic features of mucoepidermoid carcinoma of the lip.
Kawaguchi M, Murata I, Suzuki T. Kawaguchi M, et al. Among authors: suzuki t. J Dermatol. 2017 Oct;44(10):e260-e261. doi: 10.1111/1346-8138.13931. Epub 2017 Jun 8. J Dermatol. 2017. PMID: 28593658 No abstract available.
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.
Kawaguchi M, Hayashi M, Murata I, Hozumi Y, Suzuki N, Ishii Y, Wataya-Kaneda M, Funasaka Y, Kawakami T, Fukai K, Ochiai T, Nishigori C, Mitsuhashi Y, Suzuki T. Kawaguchi M, et al. Among authors: suzuki n, suzuki t. J Dermatol Sci. 2012 Jun;66(3):244-5. doi: 10.1016/j.jdermsci.2012.01.009. Epub 2012 Jan 28. J Dermatol Sci. 2012. PMID: 22336994 No abstract available.
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene.
Okamura K, Abe Y, Fukai K, Tsuruta D, Suga Y, Nakamura M, Funasaka Y, Oka M, Suzuki N, Wataya-Kaneda M, Seishima M, Hozumi Y, Kawaguchi M, Suzuki T. Okamura K, et al. Among authors: suzuki n, suzuki t. J Dermatol Sci. 2015 Jul;79(1):88-90. doi: 10.1016/j.jdermsci.2015.04.004. Epub 2015 Apr 28. J Dermatol Sci. 2015. PMID: 25982145 No abstract available.
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