1. Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot
James R. Howe, Jason Shellnut, Brian Wagner, John C. Ringold, Mohamed G. Sayed, Abul F. Ahmed, Patrick M. Lynch, Christopher I. Amos, Pertti Sistonen, Lauri A. Aaltonen 
The American Journal of Human Genetics 
Volume 70, Issue 5, Pages (May 2002)
DOI: /340258
Copyright © 2002 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Possible mechanism of the 4-bp deletion through slipped mispairing. At the replication fork, the second AG direct repeat can mispair with the complement of the first AG repeat, causing a loop on the upper strand that is excised by DNA repair enzymes. The resultant upper-strand copies will have the 4-bp deletion, whereas the lower-strand copies will be the wild-type sequence.
The American Journal of Human Genetics  , DOI: ( /340258)
Copyright © 2002 The American Society of Human Genetics Terms and Conditions