Twitter Google Share on Facebook AcronymDefinition HNPCCHereditary non-polyposis colon cancer HNPCCHereditary Non-polyposis Colon Cancer Syndrome(genetics) HNPCCHereditary Non-Polypotic Colorectal Cancer HNPCCHereditary Nonpolyposis Colorectal Cancer/Carcinoma ...
遗传性非息肉病性大肠癌(HNPCC)是一种常染色体显性遗传性疾病.目前已定位的HNPCC基因有hMSH2,hPMS2,DUG,hMLH1,hPMS1等五个.其中hMSH2,hMLH1的基因定位,基因结构,cDNA序列及常见的突变方式已见文献报道.hMSH2,hMLH1与MNPCC相关性的研究表明,这两个基因的突变是绝大多数HNPCC家族成员发病的原因.采用分子生物学...
Bmc Medical GeneticsErdmute Kunst mann,Judith Vieland,Frank E Brasch,et al.HNPCC:Six new pathogenic mutations.BMC Med Gen-et. 2004Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W. HNPCC: six new pathogenic mutations. BMC Med Genet 2004;5:16....
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A central focus of cancer genetics is the study of mutations that are causally implicated in tumorigenesis. The identification of such causal mutations not only provides insight into cancer biology but also presents anticancer therapeutic targets and diagnostic markers. Missense mutations are nucleotide su...
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Journal of medical genetics
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Hereditary Ovarian Cancer: Molecular Genetics and Clinical Implications Epidemiologic data support the existence of two discrete manifestations of hereditary ovarian carcinoma: the breast and ovarian cancer syndrome and the her... J Boyd,SC Rubin - 《Gynecologic Oncology》 被引量: 356发表: 1997年 Mism...