Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL5A1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, COL5A1

Definition : Molecular assay reagents intended to identify mutations in the collagen, type V, alpha 1 (COL5A1) gene, located at chromosome 9q34.2-q34.3, which encodes for the alpha 1 (V) chain of collagen type V (pro alpha 1 [V] chain). Mutations at this locus have been identified in patients with diseases that include Ehlers-Danlos syndrome types I and II.

Entry Terms : "Classical Ehlers-Dantos Syndrome Gene Mutation Detection Reagents" , "Ehlers-Danlos Syndrome Type II (EDS2) Gene Mutation Detection Reagents" , "COL5A1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, COL5A1"

UMDC code : 24365

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