Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CKN1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CKN1

Definition : Molecular assay reagents intended to identify mutations in the Cockayne syndrome 1 (CKN1) gene, located at chromosome 5q12.1, which is involved in transcription-coupled DNA repair. Mutations at this locus have been identified in patients with early onset of classical Cockayne's syndrome symptoms, including retinitis pigmentosa.

Entry Terms : "Type 1 Cockayne Syndrome Gene Mutation Detection Reagents" , "Retinitis Pigmentosa Gene Mutation Detection Reagents" , "CKN1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CKN1"

UMDC code : 24341

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