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Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCC8

Definition : Molecular assay reagents intended to identify mutations in the ATP-binding cassette, subfamily C, member 8 (ABCC8) gene, located at chromosome 11p15.1. Autosomal recessive mutations have been identified in patients with early-onset (neonatal) severe familial hyperinsulinism (FHI). Mutation of ABCC8 is associated with deficiencies in insulin secretion.

Entry Terms : "ABCC8-Related Hyperinsulinism Gene Mutation Detection Reagents" , "Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Gene Mutation Detection Reagents" , "FHI Familial Hyperinsulinism Gene Mutation Detection Reagents" , "Familial Hyperinsulinism (FHI) Gene Mutation Detection Reagents" , "Hyperinsulinism Gene Mutation Detection Reagents" , "ABCC8 Gene Mutation Detection Reagents"

UMDC code : 24276

   

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