纳米孔测序可实现特应性皮炎和寻常型鱼鳞病中FLG功能丧失变体的等位基因分型、基因内拷贝数变异及甲基化状态分析。 - Suppr | 超能文献

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Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris.纳米孔测序可实现特应性皮炎和寻常型鱼鳞病中FLG功能丧失变体的等位基因分型、基因内拷贝数变异及甲基化状态分析。

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2

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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3

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.寻常型鱼鳞病和特应性皮炎中 FLG 突变：突变谱和群体遗传学。

Br J Dermatol. 2010 Mar;162(3):472-7. doi: 10.1111/j.1365-2133.2009.09582.x. Epub 2009 Dec 2.

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Unique mutations in the filaggrin gene 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丝聚合蛋白基因的独特突变。

J Allergy Clin Immunol. 2007 Feb;119(2):434-40. doi: 10.1016/j.jaci.2006.12.646.

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Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.伊朗寻常型鱼鳞病和特应性皮炎患者的丝聚蛋白基因多态性。

Int J Dermatol. 2018 Dec;57(12):1485-1491. doi: 10.1111/ijd.14213. Epub 2018 Sep 23.

6

Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV.分析孤立性寻常型鱼鳞病（IV）和特应性皮炎相关 IV 中 FLG 突变频率和丝聚蛋白表达。

Br J Dermatol. 2013 Jun;168(6):1335-8. doi: 10.1111/bjd.12206. Epub 2013 Apr 1.

7

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.沙特寻常型鱼鳞病患者的丝聚蛋白基因突变。

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.对丝聚合蛋白编码基因的全面分析揭示了寻常型鱼鳞病和特应性皮炎中常见及罕见的突变。

Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8.

9

Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea.日本九州地区及韩国特应性皮炎和寻常型鱼鳞病患者中丝聚合蛋白基因突变的患病率

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10

Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis.一名患有寻常型鱼鳞病和特应性皮炎的韩国患者的丝聚合蛋白突变c.3321delA 。

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Advanced phasing techniques in congenital skin diseases.先天性皮肤病的先进分型技术

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Nanopore Long-Read Sequencing Solves the Conundrum of FLG Genetics.纳米孔长读长测序解决了丝聚合蛋白基因学的难题。