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Article

Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2005

Pool Madeline, Boudreau Larivière Céline, Bernier Gilbert, Young Kevin G, Kothary Rashmi

Abstract excerpt

The dystonin/Bpag1 gene encodes several tissue-specific alternatively spliced transcripts that encode cytoskeletal binding proteins. These various isoforms are necessary for maintaining the structural integrity of epithelial, neural, and muscle tissues. Mutations in the dystonin/Bpag1 gene cause dystonia musculorum (dt), a hereditary neuropathy of the mouse characterized by the progressive degeneration of sensory...

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PMID: 16341670
DOI: 10.1007/s00335-005-0073-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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