Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, AQP2

Reagents, Molecular Assay, Gene Anomaly, Mutation, AQP2

Definition : Molecular assay reagents intended to identify mutations in the aquaporin 2 (collecting duct) (AQP2) gene, located at chromosome 12q12-q13, which encodes for a collecting duct water channel protein located in the collecting tubule of the kidney. Mutations at this locus have been identified in patients with early-onset nephrogenic diabetes insipidus type I.

Entry Terms : "Polydipsia Gene Mutation Detection Reagents" , "Diabetes Insipidus Gene Mutation Detection Reagents" , "Polyuria Gene Mutation Detection Reagents" , "Autosomal Nephrogenic Diabetes Insipidus Gene Mutation Detection Reagents" , "Nephrogenic Diabetes Insipidus Gene Mutation Detection Reagents" , "Diabetes Gene Mutation Detection Reagents" , "AQP2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Polygenic, Diabetes" , "Diabetes Diagnostic Reagents"

UMDC code : 24293

   

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