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Low frequency of hMSH2 mutations in Swedish HNPCC families.

作者信息

Wahlberg S S, Nyström-Lahti M, Kane M F, Kolodner R D, Peltomäki P, Lindblom A

出版信息

Int J Cancer. 1997 Feb 20;74(1):134-7. doi: 10.1002/(sici)1097-0215(19970220)74:1<134::aid-ijc22>3.0.co;2-e.

DOI:10.1002/(sici)1097-0215(19970220)74:1<134::aid-ijc22>3.0.co;2-e
PMID:9036882
Abstract
摘要

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Low frequency of hMSH2 mutations in Swedish HNPCC families.瑞典遗传性非息肉病性结直肠癌(HNPCC)家系中hMSH2突变的低频率
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Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.通过变性梯度凝胶电泳鉴定出HNPCC基因hMSH2中的七个新突变。
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Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.
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Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.日本遗传性非息肉病性结直肠癌家系中hMSH2和/或hMLH1并发种系突变的鉴定。
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Two types of sporadic multiple colorectal cancers with and without HNPCC-like genetic instability.两种具有和不具有HNPCC样基因不稳定的散发性多发性结直肠癌。
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Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.结直肠癌中 hMLH1 和 hMSH2 基因病理性种系突变的流行率。
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The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
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Br J Cancer. 1999 Apr;80(1-2):11-6. doi: 10.1038/sj.bjc.6690314.