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Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.

作者信息

Kawaguchi Masakazu, Hayashi Masahiro, Murata Ichidai, Hozumi Yutaka, Suzuki Noriyuki, Ishii Yoshiyuki, Wataya-Kaneda Mari, Funasaka Yoko, Kawakami Tamihiro, Fukai Kazuyoshi, Ochiai Toyoko, Nishigori Chikako, Mitsuhashi Yoshihiko, Suzuki Tamio

出版信息

J Dermatol Sci. 2012 Jun;66(3):244-5. doi: 10.1016/j.jdermsci.2012.01.009. Epub 2012 Jan 28.

DOI:10.1016/j.jdermsci.2012.01.009
PMID:22336994
Abstract
摘要

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引用本文的文献

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Two Novel and Two Recurrent Variants of the ADAR1 Gene in Three Chinese Families with Dyschromatosis Symmetrica Hereditaria.三个遗传性对称性色素异常症中国家系中ADAR1基因的两个新变异和两个复发变异
Clin Cosmet Investig Dermatol. 2024 Oct 24;17:2373-2379. doi: 10.2147/CCID.S477138. eCollection 2024.
2
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.一个中国家系中导致对称性色素异常症的ADAR1基因新错义突变及文献复习
J Genet. 2017 Dec;96(6):1021-1026. doi: 10.1007/s12041-017-0873-9.
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Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.
中国对称性色素异常症患者的遗传谱系，包括ADAR1基因中的一种新型无义突变。
BMC Med Genet. 2016 Feb 18;17:14. doi: 10.1186/s12881-015-0255-1.