xeroderma pigmentosum

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

mutation frame shift mutation xeroderma pigmentosum transcription

突变移码突变着色性干皮病转录

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

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。

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。

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。

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

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.

clinical analysis of 39 cases with xeroderma pigmentosum

着色性干皮病39例临床分析

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

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.

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。