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Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.

作者信息

Lv Yuan, Zhao Yan, Xu Xue-Gang, Jiang Hong-Kun, Liu Cai-Xia

机构信息

Liaoning Centre for Prenatal Diagnosis, Department of Gynecology & Obstetrics, Shengjing Hospital affiliated to China Medical University, Shenyang, 110004, China.

Genetics Unit, Shenyang Women's and Children's Hospital, Shenyang, 110004, China.

出版信息

Int J Dermatol. 2016 Oct;55(10):e565-8. doi: 10.1111/ijd.13148. Epub 2016 May 27.

DOI:10.1111/ijd.13148
PMID:27230815
Abstract
摘要

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引用本文的文献

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A rare presentation of dyschromatosis symmetrica hereditaria in a Canadian context: A case report.加拿大境内遗传性对称性色素沉着异常的罕见病例报告
SAGE Open Med Case Rep. 2025 Jul 31;13:2050313X251358966. doi: 10.1177/2050313X251358966. eCollection 2025.
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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.