Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, WFS1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, WFS1

Definition : Molecular assay reagents intended to identify mutations in the Wolfram syndrome 1 (wolframin) (WFS1) gene, located at chromosome 4p16, which encodes for a transmembrane protein that participates in the regulation of cellular Ca(2+) homeostasis by modulating the filling state of the endoplasmic reticulum Ca(2+) store. This inherited genetic mutation has been identified in patients with nonsyndromic deafness; it is also associated with Wolfram syndrome.

Entry Terms : "Congenial Deafness Gene Mutation Reagents" , "Wolfram Syndrome Type 1 Gene Mutation Reagents" , "Deafness Gene Mutation Reagents" , "WFS1 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Polygenic, Diabetes" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, WFS1"

UMDC code : 25011

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