• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Proof of "disease causing" mutation.

作者信息

Cotton R G, Scriver C R

机构信息

Mutation Research Centre, St. Vincent's Hospital, Melbourne, Victoria, Australia.

出版信息

Hum Mutat. 1998;12(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M.

DOI:10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M
PMID:9633813
Abstract
摘要

相似文献

1
Proof of "disease causing" mutation.“致病”突变的证据。
Hum Mutat. 1998;12(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M.
2
Phenotypic diversity, allelic series and modifier genes.
Nat Genet. 1994 Aug;7(4):451-3. doi: 10.1038/ng0894-451.
3
Population choice in mapping genes for complex diseases.复杂疾病基因定位中的群体选择
Nat Genet. 1999 Dec;23(4):397-404. doi: 10.1038/70501.
4
Genetic polymorphisms and disease.基因多态性与疾病
N Engl J Med. 1998 May 28;338(22):1626. doi: 10.1056/NEJM199805283382214.
5
Mutation-selection balance with multiple alleles.多个等位基因的突变-选择平衡
Genetica. 1998;102-103(1-6):41-7.
6
Approaches to identify genes for complex human diseases: lessons from Mendelian disorders.识别复杂人类疾病相关基因的方法:孟德尔疾病的经验教训
Hum Mutat. 2003 Oct;22(4):261-74. doi: 10.1002/humu.10259.
7
Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.新加坡人类突变/多态性数据库:一个针对遗传性疾病中的突变和多态性以及候选基因关联研究的国家特定数据库。
Hum Mutat. 2006 Mar;27(3):232-5. doi: 10.1002/humu.20291.
8
Methods for multipoint disease mapping using linkage disequilibrium.利用连锁不平衡进行多点疾病定位的方法。
Genet Epidemiol. 2000;19 Suppl 1:S71-7. doi: 10.1002/1098-2272(2000)19:1+<::AID-GEPI11>3.0.CO;2-D.
9
Allele-specific oligonucleotide PCR.等位基因特异性寡核苷酸聚合酶链反应
Methods Mol Biol. 2002;187:47-50. doi: 10.1385/1-59259-273-2:047.
10
Modelling genotype-phenotype relationships and human disease with genetic interaction networks.利用基因相互作用网络构建基因型-表型关系模型与人类疾病模型。
J Exp Biol. 2007 May;210(Pt 9):1559-66. doi: 10.1242/jeb.002311.

引用本文的文献

1
Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.通过整合RNA测序优化遗传性癌症筛查中意义未明变异的解读
Genet Med Open. 2024 Dec 10;3:101914. doi: 10.1016/j.gimo.2024.101914. eCollection 2025.
2
The future role of facial image analysis in ACMG classification guidelines.面部图像分析在ACMG分类指南中的未来作用。
Med Genet. 2023 Jun 13;35(2):115-121. doi: 10.1515/medgen-2023-2014. eCollection 2023 Jun.
3
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
变异重新解读在遗传性心血管疾病中的重要性:建立最佳时间框架。
PLoS One. 2024 May 1;19(5):e0297914. doi: 10.1371/journal.pone.0297914. eCollection 2024.
4
What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.名字有何含义?父母及医疗保健专业人员对儿童癌症易感基因致病变异的首选术语
J Pers Med. 2022 Aug 18;12(8):1327. doi: 10.3390/jpm12081327.
5
Clinicopathological and Molecular Profiles of Sporadic Microsatellite Unstable Colorectal Cancer with or without the CpG Island Methylator Phenotype (CIMP).伴有或不伴有CpG岛甲基化表型(CIMP)的散发性微卫星不稳定型结直肠癌的临床病理和分子特征
Cancers (Basel). 2020 Nov 23;12(11):3487. doi: 10.3390/cancers12113487.
6
Variants of Uncertain Significance and "Missing Pathogenicity".意义未明的变异和“致病性缺失”
J Am Heart Assoc. 2020 Feb 4;9(3):e015588. doi: 10.1161/JAHA.119.015588. Epub 2020 Feb 3.
7
The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.MFN2基因V705I变异不是致病突变:CMT2型家族的分离分析
J Neurodegener Dis. 2013;2013:495873. doi: 10.1155/2013/495873. Epub 2012 Nov 28.
8
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.对一组临床诊断为家族性高胆固醇血症患者的突变分析:改善基因诊断的考量
Genet Med. 2016 Apr;18(4):316-24. doi: 10.1038/gim.2015.71. Epub 2015 May 28.
9
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.微阵列筛查在常规临床实践中对常染色体隐性遗传性视网膜色素变性的疗效。
Mol Vis. 2015 Apr 28;21:461-76. eCollection 2015.
10
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.基于细胞的错义等位基因系统表型分析助力罕见变异关联研究:以低密度脂蛋白受体与心肌梗死为例
PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb.