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IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科  > 期刊论文
学科主题: 临床医学
题名:
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients
作者: Sun, XK; Ma, LL; Xie, YQ; Zhu, XJ
关键词: keratin 1 ; keratin 10 ; epidermolytic hyperkeratosis ; mutation
刊名: JOURNAL OF DERMATOLOGICAL SCIENCE
发表日期: 2002-09-01
卷: 29, 期:3, 页:195-200
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]: CONGENITAL ICHTHYOSIFORM ERYTHRODERMA ; 2B ROD DOMAIN ; GENETIC-BASIS ; CHROMOSOME-12Q ; LINKAGE ; ACID
英文摘要:

Epidermolytic hyperkeratosis (EHK) is a rare dominantly inherited skin disorder with erythroderma and hyperkeratosis. Mutations have been found in keratin 1 (K1) or keratin 10 (K10) gene. In the present study, we reported three sporadic and one familial Chinese EHK patients with their mutation findings. All the mutations turned out to be single heterozygous point substitutions. A novel mutation designated as E477K of K1 was identified in one patient, and previous reported mutations in codon 156 of K10, i.e. R156S, R156P, R156H were found in other patients. This is the first report of the keratin mutations in Chinese kindreds. The results showed that the possible correlation between the genotype and phenotype in these patients was complex, not only depended on the position of the mutation but also on the actual amino acid substitution. And palmoplantar keratoderma (PPKD) can be an accompanied symptom caused by either K1 or K10 mutation. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.

语种: 英语
WOS记录号: WOS:000178517200006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55840
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: Peking Univ, First Hosp, Dept Dermatol, Beijing 100034, Peoples R China

Recommended Citation:
Sun, XK,Ma, LL,Xie, YQ,et al. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients[J]. JOURNAL OF DERMATOLOGICAL SCIENCE,2002,29(3):195-200.
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