Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Kobner-type epidermolysis bullosa simplex.

Saeki H; Nakamura K; Tsunemi Y; Komine M; Tamaki K

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Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Kobner-type epidermolysis bullosa simplex.

机译：一名日本Kobner型大疱性表皮松解患者中角蛋白5基因H1结构域的新型突变（Asp158Val）。

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We describe a 19-year-old Japanese male with Kobner-type epidermolysis bullosa simplex (EBS-KB) with a novel keratin gene mutation. The patient developed blisters on the feet, palms, elbows and knees soon after birth. His father is similarly affected with blistering, but his mother and younger brother are not affected. Histological examination revealed that the primary separation in the blister occurred within the basal cell layer. Sequence analysis demonstrated an A-to-T transition at the second position of codon 158 in the keratin 5 (K5) gene. The amino acid at codon 158 was deduced to have changed from asparagine to valine. We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS-KB. This is the first gene mutation report of EBS-KB in the H1 domain of the K5 gene.

机译：我们描述了一个新的角蛋白基因突变的Kobner型表皮松解大疱（EBS-KB）的19岁日本男性。出生后不久，患者的脚，手掌，肘部和膝盖出现水泡。他的父亲也受到水泡的影响，但他的母亲和弟弟没有受到影响。组织学检查表明，水泡的主要分离发生在基底细胞层内。序列分析表明，在角蛋白5（K5）基因中第158位密码子的第二个位置发生了A到T转换。推断第158位密码子的氨基酸已从天冬酰胺变为缬氨酸。我们在这名日本EBS-KB患者中发现了K5基因H1结构域的新型突变（Asp158Val）。这是EBS-KB在K5基因的H1域中的第一个基因突变报告。

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来源
《The Journal of dermatology》 |2006年第10期|共4页
作者
Saeki H; Nakamura K; Tsunemi Y; Komine M; Tamaki K;
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正文语种 eng
中图分类皮肤病学与性病学;
关键词
Genes; Japanese language; Patients; keratin 5; Mutation; 基因; 病人; 突变;

机译：Genes;Japanese language;Patients;keratin 5;Mutation;基因;病人;突变;

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1. Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Kobner-type epidermolysis bullosa simplex. [J] . Saeki H, Nakamura K, Tsunemi Y, The Journal of dermatology . 2006,第10期

机译：一名日本Kobner型大疱性表皮松解患者中角蛋白5基因H1结构域的新型突变（Asp158Val）。
2. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. [J] . Csikos M, Szalai Z, Becker K, Experimental dermatology . 2004,第3期

机译：匈牙利患有大疱性表皮松解症患者的新型角蛋白14基因突变。
3. Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. [J] . Chen H, Bonifas JM, Matsumura K, The Journal of investigative dermatology. . 1995,第4期

机译：单纯性表皮松解患者的角蛋白14基因突变。
4. Epidermolysis Bullosa A Genetic Disease of Altered Cell Adhesion and Wound Healing, and the Possible Clinical Utility of Topically Applied Thymosin β4 [C] . JO-DAVID FINE International Symposiumn on Thymosins in Health and Disease; 20070321-24; Washington,DC(US) . 2007

机译：大表皮松解症一种细胞粘附和伤口愈合改变的遗传疾病，以及局部应用胸腺素β4的可能临床应用
5. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
6. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. [O] . A Letai, P A Coulombe, M B McCormick, 1993

机译：疾病严重程度与大疱表皮松解症患者角蛋白点突变的位置有关。
7. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. [O] . Letai, A, Coulombe, P A, McCormick, M B, 1993

机译：疾病严重程度与大疱性表皮松解患者角蛋白点突变的位置有关。

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Kobner-type epidermolysis bullosa simplex.

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