Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, KIF21A

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, KIF21A

Definition : Molecular assay reagents intended to identify mutations in the kinesin family member 21A (KIF21A) gene, located at chromosome 12q12, which encodes for a protein involved in the transport of essential cellular components along neuronal microtubules. Mutations at this locus have been identified in patients with congenital fibrosis of extra-ocular muscles (CFEOM1).

Entry Terms : "Fibrosis of Extraocular Muscles, Congenital, Type 1 (CFEOM1) Gene Mutation Reagents" , "KIF21A Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, KIF21A"

UMDC code : 24585

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