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Knock-In Mouse Model of Oculopharyngeal Muscular Dystrophy
ApplicationConditional knock-in mouse mimicking Oculopharyngeal muscular dystrophy.Technical SummaryOculopharyngeal muscular dystrophy (OPMD) is rare genetic disease caused by a mutation in the PABPN1 gene. In this mutation, the number of GCG trinucleotide repeats at the 5' end of PABPN1 are increased, which leads to an expansion of an alanine repeat...
Published: 12/1/2023
Contributor(s): Grace Pavlath, Anita Corbett, Katherine Vest
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