Article
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
American journal of human genetics - 1 Oct 1996
Kohonen-Corish M, Ross V L, Doe W F, Kool D A, Edkins E, Faragher I, Wijnen J, Khan P M, Macrae F, St John D J
Abstract excerpt
Hereditary nonpolyposis colorectal cancer (HNPCC) is a cancer syndrome inherited in an autosomal dominant fashion. Four susceptibility genes are known, which code for DNA mismatch repair enzymes. The purpose of this study was to identify the HNPCC gene defects in a cohort of Australian HNPCC families and to evaluate the use of RNA-based screening methods. Six mutations were identified, four in the hMLH1 gene and...
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