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Reagents, Molecular Assay, Gene Anomaly, Mutation, CFTR

Definition : Molecular assay reagents intended to identify mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located at chromosome 7q31.2, which encodes for the cystic fibrosis transmembrane conductance regulator protein. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. Transport of chloride ions helps control the movement of water in tissues and maintains the fluidity of mucus and other secretions. Mutations at this locus have been identified in patients with cystic fibrosis and congenital bilateral aplasia of the vas deferens.

Entry Terms : "CFTR-Related Disorders Gene Mutation Detection Reagents" , "Mucoviscidosis Gene Mutation Detection Reagents" , "Congenital Bilateral Absence of the Vas Deferens (CBAVD) Gene Mutation Detection Reagents" , "Cystic Fibrosis Diagnostic Reagents" , "Cystic Fibrosis Gene Mutation Detection Reagents" , "CFTR Gene Mutation Detection Reagents" , "Cystic Fibrosis Associated Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Cystic Fibrosis" , "Cystic Fibrosis Determination Reagents"

UMDC code : 24335

   

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