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Exonization of an intronic L1 element in the dystrophin gene associated with X-linked Muscular Dystrophy in a Border Collie dog

ABSTRACT: An insertion of a L1 element of unknown length in intron 63 of the canine dystrophin gene (NC_051843.1:g.26431863_26431864insN[?]), introducing a 162-bp L1 pseudoexon between DMD exon 63 and 64, and resulting in a frameshift and a premature stop codon in the DMD transcript (NM_001003343.1: c.9271_9272insN[162] p.(Ala3091fs*21)), is associated with a mild form of dystrophin-deficient muscular dystrophy in a male Border Collie.

INSTRUMENT(S): -

ORGANISM(S): Canis Lupus Familiaris

SUBMITTER: Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University

PROVIDER: PRJEB77521 | EVA | 2025-06-30

REPOSITORIES: EVA

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Source:

			Action	DRS
	CfamDMD_INS_BC.accessioned.vcf.gz	Vcf
	CfamDMD_INS_BC.accessioned.vcf.gz.csi	Vcf
	CfamDMD_INS_BC.vcf.csi	Other
	CfamDMD_INS_BC.vcf.gz	Vcf

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Exonization of an intronic L1 element in the dystrophin gene associated with X-linked Muscular Dystrophy in a Border Collie dog

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