> Reagents, Molecular Assay, Gene Anomaly, Mutation, LMNA
Reagents, Molecular Assay, Gene Anomaly, Mutation, LMNA
Definition : Molecular assay reagents intended to identify mutations in the lamin A/C (LMNA) gene, located at chromosome 1q21.2-q21.3, which provides instructions for making several different lamin proteins. Lamin A and lamin C are made in most cells of the body. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth-neuropathy type 2B and Emery-Dreifuss muscular dystrophy.
Entry Terms : "Hypertrophic Cardiomyopathy Gene Mutation Reagents" , "Limb-Girdle Muscular Dystrophy Type 1B Gene Mutation Reagents" , "Werner Syndrome Type 2 Restrictive Dermopathy Gene Mutation Reagents" , "Hutchinson-Gilford Progeria Syndrome (HGPS) Gene Mutation Reagents" , "Familial Partial Lipodystrophy (Dunnigan Type) Gene Mutation Reagents" , "Charcot-Marie-Tooth Neuropathy Type 2B1 (CM&2B1) Gene Mutation Reagents" , "Emery-Dreifuss Muscular Dystrophy (EDMD) Gene Mutation Reagents" , "Laminopathy Gene Mutation Reagents" , "Hereditary Neuropathy Gene Mutation Reagents" , "LMNA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy"
UMDC code : 24594
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