Founder mutations in xeroderma pigmentosum.
Founder mutations in xeroderma pigmentosum.
复制标题
着色性干皮病的创始人突变。
DOI：
10.1038/jid.2010.76
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发表时间：
2010
期刊：
影响因子：
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通讯作者：
Kraemer,KennethH
中科院分区：
文献类型：
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作者：
Tamura,Deborah;DiGiovanna,JohnJ;Kraemer,KennethH
在本期中，Soufiret等人报道了在北非马格里布地区（阿尔及利亚、摩洛哥和突尼斯）74%的着色性干皮病（XP）家庭中xpcdna修复基因的创始突变。这些病人患皮肤癌的频率很高。这种始创突变的存在为XP的遗传咨询和早期诊断提供了机会。
In this issue, Soufiret al.report a founder mutation in theXPCDNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.