Article
Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
American journal of medical genetics. Part A - 1 May 2013
Owens Kailey M, Quinonez Shane C, Thomas Peedikayil E, Keegan Catherine E, Lefebvre Nanci, Roulston Diane, Larsen Christine A, Stadler H Scott, Innis Jeffrey W
Abstract excerpt
Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand-foot-genital syndrome (HFGS) associated with polyalanine expansions in HOXA13 that afforded rare opportunities to investigate the mechanism. The first patient with HFGS was heterozygous for a de novo nine codon polyalanine expansion....
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