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Publication : De novo exon duplication in a new allele of mouse Glra1 (spasmodic).

First Author  Holland KD Year  2006
Journal  Genetics Volume  174
Issue  4 Pages  2245-7
PubMed ID  17028313 Mgi Jnum  J:137595
Mgi Id  MGI:3801268 Doi  10.1534/genetics.106.065532
Citation  Holland KD, et al. (2006) De novo exon duplication in a new allele of mouse Glra1 (spasmodic). Genetics 174(4):2245-7
abstractText  The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage mechanism.
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