Article
New mutations in the APC gene in familial adenomatous polyposis: detection, characterization, and analysis.
Bulletin of experimental biology and medicine - 1 Mar 2005
Muzaffarova T A, Pospekhova N I, Sachkov I Yu, Kuz'minov A M, Ginter E K, Karpukhin A V
Abstract excerpt
The spectrum of mutations in the APC gene in familial adenomatous polyposis was detected in a sampling from the Russian population. Fifteen new mutations were found. Deletions associated with the loss of only 1 or 2 nucleotides (89% cases) prevailed among new (unique) mutations, while all known deletions were caused by the loss of 4 or 5 nucleotides. The detected differences in the deletion characteristics...
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