Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.

Hajer J; Kepelova A; Zadorova Z; Kment M

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Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.

机译：在遗传性非息肉性结直肠癌患者中，MLH1基因的两个新种系突变（Y548X和K732X）。

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《Human mutation》 |2000年第2期|共1页
作者
Hajer J; Kepelova A; Zadorova Z; Kment M;
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正文语种 eng
中图分类基础医学;
关键词
Colorectal Neoplasms; Colorectal Neoplasms; Hereditary Nonpolyposis; Germ-Line Mutation; 结肠直肠肿瘤; 结肠直肠肿瘤; 遗传性非息肉性; 生殖细胞系突变; 赖氨酸; 肿瘤蛋白质类;

机译：Colorectal Neoplasms;Colorectal Neoplasms;Hereditary Nonpolyposis;Germ-Line Mutation;结肠直肠肿瘤;结肠直肠肿瘤;遗传性非息肉性;生殖细胞系突变;赖氨酸;肿瘤蛋白质类;

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1. Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer. [J] . Hajer J, Kepelova A, Zadorova Z, Human mutation . 2000,第2期

机译：在遗传性非息肉性结直肠癌患者中，MLH1基因的两个新种系突变（Y548X和K732X）。
2. Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer [J] . Mahdi Montazer Haghighi, Ramin Radpour, Katayoun Aghajani, International Journal of Colorectal Disease . 2009,第8期

机译：遗传性非息肉性大肠癌患者MLH1和PMS2错配修复基因中的四个新种系突变
3. Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer. [J] . Kruger Stefan, Plaschke Jens, Pistorius Steffen, Human mutation . 2002,第1期

机译：遗传性非息肉性结直肠癌中的七个新的MLH1和MSH2种系突变。
4. Clinical Implications of Molecular Diagnosis in Hereditary Nonpolyposis Colorectal Cancer [C] . Gabriela Moslein International Meeting on Molecular Staging on Cancer . 2003

机译：遗传性非痘痘病变结直肠癌分子诊断的临床意义
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Microsatellite Stable Colorectal Cancers in Clinically Suspected Hereditary Nonpolyposis Colorectal Cancer Patients without Vertical Transmission of Disease Are Unlikely to Be Caused by Biallelic Germline Mutations in MYH [O] . Heike Görgens, Stefan Krüger, Eberhard Kuhlisch, 2006

机译：临床疑似遗传性非息肉病大肠癌患者中无垂直传播疾病的微卫星稳定大肠癌很可能是由MYH中的双等位基因生殖突变引起的
7. Microsatellite Stable Colorectal Cancers in Clinically Suspected Hereditary Nonpolyposis Colorectal Cancer Patients without Vertical Transmission of Disease Are Unlikely to Be Caused by Biallelic Germline Mutations in MYH [O] . Görgens, Heike, Krüger, Stefan, Kuhlisch, Eberhard, 2006

机译：临床可疑遗传性非息肉病大肠癌患者中无垂直传播疾病的微卫星稳定大肠癌很可能是由MYH中的双等位基因生殖突变引起的

Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.

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