Article
Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.
Australian and New Zealand journal of medicine - 1 Dec 1994
Van de Water N S, Jeevaratnam P, Browett P J, Stewart S M, Lane M R, Jass J R
Abstract excerpt
BACKGROUND: It is now known that a proportion of cases of hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in the human homologue of the yeast DNA mismatch repair gene MSH2. A proline to leucine change due to a C to T transition in codon 622 of hMSH2 has been identified in a large HNPCC family of over 240 individuals. AIM: To develop an assay to detect the family-specific mutation and...
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