首页> 外文OA文献 >Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

【2h】

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

机译：hMSH2和hMLH1错配修复基因中的错义和剪接位点突变的致病性：对基因测试的意义

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

Background: In hereditary non-polyposis colorectal cancer, over 90% of the identified mutations are in two genes, hMSH2 and hMLH1. A large proportion of the mutations detected in these genes are of the missense type which may be either deleterious mutations or harmless polymorphisms.

机译：背景：在遗传性非息肉性大肠癌中，超过90％的已鉴定突变来自hMSH2和hMLH1两个基因。这些基因中检测到的大部分突变是错义类型，可能是有害突变或无害多态性。

著录项

作者
Cravo, M; Afonso, A J; Lage, P; Albuquerque, C; Maia, L; Lacerda, C; Fidalgo, P; Chaves, P; Cruz, C; Nobre-Leitão, C;
展开▼
作者单位

展开▼
年度 2002
总页数
原文格式 PDF
正文语种 en
中图分类

相似文献

外文文献
中文文献
专利

1. Germline Mutations of the hMLH1 and hMSH2 Mismatch Repair Genes in Belgian Hereditary Nonpolyposis Colon Cancer (HNPCC) Patients [J] . M. Spaepen, B. Vankeirsbilck, S. Van Opstal, Familial Cancer . 2006,第2期

机译：比利时遗传性非息肉性结肠癌（HNPCC）患者的hMLH1和hMSH2错配修复基因的种系突变
2. Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. [J] . Spaepen M, Vankeirsbilck B, Van-Opstal S, Familial cancer . 2006,第2期

机译：比利时遗传性非息肉性结肠癌（HNPCC）患者的hMLH1和hMSH2失配修复基因的生殖系突变。
3. Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability. [J] . Kobayashi K, Matsushima M, Koi S, Japanese Journal of Cancer Research . 1996,第2期

机译：在具有微卫星不稳定性的偶发性子宫内膜癌中错配修复基因hMLH1和hMSH2的突变分析。
4. Single Locked Nucleic Acid-enhanced nanopore genetic discrimination of pathogenic serotypes and cancer driver mutations [C] . Kai Tian, Xiaowei Chen, Bingqun Luan, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2018

机译：单锁核酸增强的致病血清型和癌症驱动基因突变的纳米孔遗传判别
5. Insights Into the Mechanism of DNA Mismatch Repair Through a Biochemical Study of Cancer-Associated hMSH2-hMSH6 Mutations. [D] . Cyr, Jennifer Lynn. 2012

机译：通过与癌症相关的hMSH2-hMSH6突变的生化研究深入了解DNA错配修复的机制。
6. Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing [O] . M Cravo, A J Afonso, P Lage, 2002

机译：hMSH2和hMLH1错配修复基因中的错义和剪接位点突变的致病性：对基因测试的意义
7. Human cells bearing homozygous mutations in the DNA mismatch repair genes hMLH1 or hMSH2 are fully proficient in transcription-coupled nucleotide excision repair [O] . Patrick J Rochette, Nathalie Bastien, Bruce C McKay, 2002

机译：在DNA错配修复基因HMLH1或HMSH2中轴承纯合突变的人体细胞完全精通转录偶联的核苷酸切除修复

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

摘要

著录项

相似文献

相关主题

期刊订阅