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Xeroderma pigmentosum group C in an isolated region of Guatemala.

作者信息

Cleaver James E, Feeney Luzviminda, Tang Jean Y, Tuttle Peggy

出版信息

J Invest Dermatol. 2007 Feb;127(2):493-6. doi: 10.1038/sj.jid.5700555. Epub 2006 Sep 21.

DOI:10.1038/sj.jid.5700555
PMID:16990803
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3031115/
Abstract
摘要

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本文引用的文献

1
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.着色性干皮病患者临床正常父母中XPC DNA修复基因mRNA水平降低。
Carcinogenesis. 2006 Jan;27(1):84-94. doi: 10.1093/carcin/bgi204. Epub 2005 Aug 4.
2
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.着色性干皮病DNA修复基因的一个内含子中有两个必需的剪接套索分支点序列：突变导致XPC mRNA水平降低，这与癌症风险相关。
Hum Mol Genet. 2004 Feb 1;13(3):343-52. doi: 10.1093/hmg/ddh026. Epub 2003 Dec 8.
3
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.人类XPC DNA修复基因：基因排列、剪接位点信息含量以及剪接受体位点单核苷酸多态性对可变剪接和功能的影响。
Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469.
4
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.土耳其和意大利着色性干皮病C组家族中的一个终止密码子：共同祖先的分子遗传学证据。
J Invest Dermatol. 2001 Aug;117(2):197-204. doi: 10.1046/j.1523-1747.2001.01424.x.
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Genome maintenance mechanisms for preventing cancer.预防癌症的基因组维持机制。
Nature. 2001 May 17;411(6835):366-74. doi: 10.1038/35077232.
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Human DNA repair genes.人类DNA修复基因。
Science. 2001 Feb 16;291(5507):1284-9. doi: 10.1126/science.1056154.
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A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.一种新的着色性干皮病C组聚（AT）插入/缺失多态性。
Carcinogenesis. 2000 Oct;21(10):1821-5. doi: 10.1093/carcin/21.10.1821.
8
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.患有着色性干皮病的家族中XPC基因的突变及其在细胞、蛋白质和转录水平上的影响。
Cancer Res. 2000 Apr 1;60(7):1974-82.
9
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.突尼斯着色性干皮病A组患者中，着色性干皮病A组互补（XPAC）基因第6外显子点突变的高发生率。
Am J Hum Genet. 1993 Nov;53(5):1001-6.
10
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.着色性干皮病。一种遗传性疾病，对阳光敏感，有多种皮肤肿瘤，且DNA修复异常。
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