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  • Molecular assay reagents intended to identify mutations in the fukutin-related protein (FKRP) gene, located at chromosome 19q13.3, which possibly encodes for a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG-1). Mutations at this locus have been identified in patients with early-onset (neonatal) congenital muscular dystrophy type 1C (MDC1C) and type 21 (LDMG21).
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