寻常型鱼鳞病和特应性皮炎埃塞俄比亚患者的全外显子组测序 - Suppr

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

作者信息

Taylan Fulya, Nilsson Daniel, Asad Samina, Lieden Agne, Wahlgren Carl-Fredrik, Winge Mårten C G, Bilcha Kassahun Desalegn, Nordenskjöld Magnus, Bradley Maria

机构信息

Department of Molecular Medicine & Surgery and the Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.

出版信息

J Allergy Clin Immunol. 2015 Aug;136(2):507-9.e19. doi: 10.1016/j.jaci.2015.02.010. Epub 2015 Mar 26.

DOI:10.1016/j.jaci.2015.02.010

PMID:25819062

Abstract

摘要

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Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.寻常型鱼鳞病和特应性皮炎埃塞俄比亚患者的全外显子组测序

J Allergy Clin Immunol. 2015 Aug;136(2):507-9.e19. doi: 10.1016/j.jaci.2015.02.010. Epub 2015 Mar 26.

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.寻常型鱼鳞病：德国人群中的新型丝聚合蛋白突变以及特应性亚组表皮中CD1a+细胞的高表达。

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De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis.在一个患有寻常型鱼鳞病并发特应性皮炎的日本家庭中，丝聚合蛋白突变p.R501X与常见突变c.3321delA的新发情况。

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Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.日本寻常型鱼鳞病和特应性皮炎患者中丝聚合蛋白编码基因的常见和罕见突变

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Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese.汉族人群中寻常型鱼鳞病与特应性皮炎之间的丝聚蛋白（FLG）突变关联

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Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

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