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A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the Gene.

作者信息

Yasuda Hazuki, Kanazawa Nobuo, Matsuda Mitsuhiro, Hamada Takahiro, Furumura Minao, Hashimoto Takashi, Nakama Takekuni, Furukawa Fukumi

机构信息

Department of Dermatology, Wakayama Medical University, Wakayama, Japan.

Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.

出版信息

Ann Dermatol. 2017 Oct;29(5):642-644. doi: 10.5021/ad.2017.29.5.642. Epub 2017 Aug 25.

DOI:10.5021/ad.2017.29.5.642
PMID:28966528
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5597665/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbaa/5597665/f85122669649/ad-29-642-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbaa/5597665/f85122669649/ad-29-642-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbaa/5597665/f85122669649/ad-29-642-g001.jpg

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引用本文的文献

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Mol Genet Genomic Med. 2021 Feb;9(2):e1580. doi: 10.1002/mgg3.1580. Epub 2020 Dec 20.

本文引用的文献

1
Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease.黎巴嫩家族中ATP2C1基因多个突变的鉴定：对黑棘皮病发病机制的深入了解。
PLoS One. 2015 Feb 6;10(2):e0115530. doi: 10.1371/journal.pone.0115530. eCollection 2015.
2
Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease.在黑利-黑利病培养的角质形成细胞中，突变对mRNA和蛋白质表达的依赖性影响。
Exp Dermatol. 2014 Jul;23(7):514-6. doi: 10.1111/exd.12410.
3
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease.
氨基糖苷类药物作为治疗黑利-黑利病的潜在药物遗传学药物。
J Invest Dermatol. 2006 Jan;126(1):229-31. doi: 10.1038/sj.jid.5700031.
4
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.海利-海利病：ATP2C1基因新突变的分子与临床特征
J Invest Dermatol. 2002 Feb;118(2):338-43. doi: 10.1046/j.0022-202x.2001.01675.x.
5
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.编码一种钙泵的ATP2C1基因发生突变会导致黑利-黑利病。
Nat Genet. 2000 Jan;24(1):61-5. doi: 10.1038/71701.