xeroderma pigmentosum
- 着色性干皮病
xeroderma pigmentosumnoun
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- a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn;inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light
数据来源：WordNet
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Xeroderma pigmentosum - A Report of Three Cases from Two Families
着色性干皮病：二家系三例报告
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Genetic complementation group analysis of xeroderma pigmentosum patients in China
中国人着色性干皮病遗传互补组分析
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Clinical Analysis of 39 Cases with Xeroderma Pigmentosum
着色性干皮病39例临床分析
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Establishment of the fibroblast cell line in the xeroderma pigmentosum patient and a study of its biological characteristics
着色性干皮病皮肤成纤维细胞系（XP4SH）的建立及其生物学特性
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Xeroderma pigmentosum : immunological studies in the patients
着色性干皮病患者的免疫学研究
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Association between Genetic Polymorphism in Xeroderma Pigmentosum G Gene and Risks of Laryngeal and Hypopharyngeal Carcinomas
着色性干皮病G组基因多态性与喉癌和喉咽癌风险的相关性
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Study of AND Repair Enzyme System I. Ultraviolet-Induced H-TdR Unscheduled Incorporations Xeroderma Pigmentosum Lymphocytes
DNA修复酶系统的研究&Ⅰ.紫外线诱发~3H-TdR在着色性干皮病淋巴细胞中的非合成期掺入
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Mild mutations in XPF cause the cancer-prone syndrome xeroderma pigmentosum .
XPF轻微突变导致致癌倾向综合征着色性干皮病。
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Objective To establish skin fibroblast cell strains derived from Chinese xeroderma pigmentosum ( XP ) patients and to analyze the genetic complementation group and distribution .
目的建立中国人着色性干皮病（xerodermapigmentosum，XP）患者成纤维细胞株，分析其遗传互补组及分布。
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BACKGROUND & OBJECTIVE : Xeroderma pigmentosum group C ( XPC ) gene is involved in nucleotide excision repair ( NER ) .
背景与目的：XPC基因参与核苷酸切除修复，该基因存在单核苷酸多态性（SNP）位点，并可能通过SNP位点碱基的改变影响其修复能力及疾病易感性。
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One is Xeroderma Pigmentosum ( XP ) and the other is the Cockayne Syndrome ( OS ) .
一是着色性干皮病（XP），另一是Cockayne综合征（CS）。
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Objective To study the association between polymorphism of DNA repair gene xeroderma pigmentosum G ( XPG ) Asp1104His and the risks of developing laryngeal and hypopharyngeal carcinomas .
目的研究DNA修复基因着色性干皮病G组基因（XPG）Asp1104His多态性与喉癌和喉咽癌风险的相关性。
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Fourty fiue cases with xeroderma pigmentosum in 27 families reported by literatures in China from 1955 to 1985 . The age of patients at onset of the disease range from 3 months to 20 years .
本文分析了国内1955～1986年文献报道的27个家族45例着色性干皮病。
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Clinical data of 13 cases of xeroderma pigmentosum ( XP ) in 6 families collected in Ningxia region from 1984 to 1992 are presented . Among them , 4 patients from 2 families were followed up for 8 years .
报告了1984～1992年宁夏地区6家系13例着色性干皮病（XP）患者的临床及两家系4例患者长达8年的随访情况。