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One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China.

作者信息

Zhou Xi-Yuan, Chen Xue-Jun, Wang Sheng, Xue Jing, Liu Wei, Wang Qian, Chen Ming-Hui, Duan Xi-Ling

机构信息

Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.

Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.

出版信息

Int J Dermatol. 2016 Feb;55(2):223-5. doi: 10.1111/ijd.12442. Epub 2014 Jun 25.

DOI:10.1111/ijd.12442
PMID:24962159
Abstract
摘要

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One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China.中国西南部一名患有肠病性肢端皮炎女童的SLC39A4基因存在一个反复出现的纯合突变。
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Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.肠病性肢端皮炎:锌水平正常患者中的一种新型SLC39A4基因突变
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Novel SLC39A4 mutation in acrodermatitis enteropathica.肠病性肢端皮炎中的新型SLC39A4突变。
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[Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica].
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Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.一组肠病性肢端皮炎患者中人类SLC39A4的突变谱
Hum Mutat. 2003 Oct;22(4):337-8. doi: 10.1002/humu.9178.

引用本文的文献

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Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies.儿科人群中的肠病性肢端皮炎:真实世界研究的文献综述
Front Nutr. 2025 Jun 13;12:1590075. doi: 10.3389/fnut.2025.1590075. eCollection 2025.
2
Variants of cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series.中国西南部四川地区藏族、彝族和汉族家庭中导致肠病性肢端皮炎的变异:病例报告系列
Front Med (Lausanne). 2024 May 20;11:1399511. doi: 10.3389/fmed.2024.1399511. eCollection 2024.
3
Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.
分析 SLC39A4 基因突变位点与肠病性肢端皮炎的关系:附一例罕见中国双胞胎病例报告并文献复习。
BMC Pediatr. 2020 Jan 27;20(1):34. doi: 10.1186/s12887-020-1942-4.