Genotype–phenotype correlation of xeroderma pigmentosum in a Chinese Han population
Genotype–phenotype correlation of xeroderma pigmentosum in a Chinese Han population
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DOI：
10.1111/bjd.13429
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发表时间：
2015-04
影响因子：
10.3
通讯作者：
Z. Sun;J. Zhang;Y. Guo;C. Ni;J. Liang;R. Cheng;M. Li;Z. Yao
中科院分区：
文献类型：
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作者：
Z. Sun;J. Zhang;Y. Guo;C. Ni;J. Liang;R. Cheng;M. Li;Z. Yao
色素性干皮病 (XP) 是一种罕见的常染色体隐性遗传疾病，其特征是对阳光极度敏感、出现雀斑样色素沉着以及皮肤癌发病率大大增加。中国汉族人群XP基因突变检测和基因型-表型分析鲜有报道。
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle‐like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype–phenotype analysis of XP are rarely reported in the Chinese Han population.