xeroderma pigmentosum

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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cloning and expression of xeroderma pigmentosum complementation group a cdna and the identification of its recombinant protein

A组着色性干皮病基因的克隆、表达及重组蛋白的鉴定

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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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Objective To obtain more quantitative descriptive data of Chinese patients with xeroderma pigmentosum ( XP ).

目的获取我国着色性干皮病 ( XP ) 患者更多的临床定量描述数据.

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mutation frame shift mutation xeroderma pigmentosum transcription

突变移码突变着色性干皮病转录

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the diagnosis of xeroderma pigmentosum was confirmed according to clinical manifestations and histopathological findings.

结合临床表现和组织病理诊断为着色性干皮病。

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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。

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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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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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clinical analysis of 39 cases with xeroderma pigmentosum

着色性干皮病39例临床分析

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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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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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