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学科主题: 临床医学
题名:
SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton′s syndrome
作者: 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
发表日期: 2007-09-01
DOI: 10.1111/j.1365-2230.2007.02438.x
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62795
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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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

Recommended Citation:
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.
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