De novo exon duplication in a new allele of mouse Glra1 (spasmodic).
نویسندگان
چکیده
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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عنوان ژورنال:
- Genetics
دوره 174 4 شماره
صفحات -
تاریخ انتشار 2006