IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ENG
Definition : Molecular assay reagents intended to identify mutations in the endoglin (ENG) gene, located at chromosome 9q34.1, which encodes for the protein endolase found on the surface of cells, especially in the lining of newly formed arteries. This complex is involved in the specialization of new blood vessels into arteries or veins. Mutations at this locus have been identified in patients with hereditary hemorrhagic telangiectasia type 1 (HHT1).
Entry Terms : "ENG-Related Hereditary Hemorrhagic Telangiectasia Gene Mutation Detection Reagents" , "Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) Gene Mutation Detection Reagents" , "ENG Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ENG"
UMDC code : 24400