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  • Molecular assay reagents intended to identify mutations in the like-glycosyltransferase (LARGE) gene, located at chromosome 22q12.3-q13.1, which encodes for a protein that is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan. mutations at this locus have been identified in patients with congenital muscular dystrophy type 1D.
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