Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL3A1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL3A1

Definition : Molecular assay reagents intended to identify mutations in the collagen, type III, alpha 1 (COL3A1) gene, located at chromosome 2q31, which encodes for type III fibrillar collagen, found in the connective tissue of the lungs, skin, and vascular system. Mutations at this locus have been identified in most patients with Ehlers-Danlos syndrome type IV (EDS4, vascular type).

Entry Terms : "Vascular Ehlers-Danlos Syndrome Gene Mutation Detection Reagents" , "Ehlers-Danlos Syndrome Type IV (EDS4) Gene Mutation Detection Reagents" , "COL3A1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COL3A1"

UMDC code : 24361

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