IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton′s syndrome
Zhao, Y.; Ma, Z. H.; Yang, Y.; Yang, S. X.; Wu, L. S.; Ding, B. L.; Lin, Z. M.; Wang, A. P.; Bu, D. F.; Tu, P.
刊名CLINICAL AND EXPERIMENTAL DERMATOLOGY
2007-09-01
DOI10.1111/j.1365-2230.2007.02438.x
32期:5页:564-567
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]EXPRESSION ; SPECTRUM ; DISEASE
英文摘要

Netherton′s syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI) protein. We observed microstructural changes and detected LEKTI activity and SPINK5 gene mutation in three Chinese patients with Netherton′s syndrome. Decreased LEKTI activity was found in the skin of patients. Lamellar bodies and foci of electron-dense material were detected in the intercellular spaces of the stratum corneum. A novel homozygous splicing mutation of 1430 + 2 T -> G was found in the SPINK5 gene in one proband. No mutation was found in the other family.

语种英语
WOS记录号WOS:000248978500020
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62795
专题北京大学第一临床医学院_皮肤性病科
作者单位1.Peking Univ, First Hosp, Dept Dermatol, Beijing 100034, Peoples R China
2.Mudanjiang Med Univ, Hongqi Hosp, Mudanjiang, Heilongjiang, Peoples R China
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GB/T 7714
Zhao, Y.,Ma, Z. H.,Yang, Y.,et al. SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton′s syndrome[J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY,2007,32(5):564-567.
APA Zhao, Y..,Ma, Z. H..,Yang, Y..,Yang, S. X..,Wu, L. S..,...&Tu, P..(2007).SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton′s syndrome.CLINICAL AND EXPERIMENTAL DERMATOLOGY,32(5),564-567.
MLA Zhao, Y.,et al."SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton′s syndrome".CLINICAL AND EXPERIMENTAL DERMATOLOGY 32.5(2007):564-567.
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