Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.
3(rd) Medical Faculty, Charles University Prague, Department of Gastroenterology, Czech Republic. jan.hajer@post.lf3.cuni.cz
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Hajer
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Kepelová
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Zádorová
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Kment
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D020137:Base Pair Mismatch; D002352:Carrier Proteins; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D011110:Polymorphism, Genetic; D014443:Tyrosine / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D014443:Tyrosine; D000070957:MutL Protein Homolog 1; D008239:Lysine