Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ERCC6

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ERCC6

Definition : Molecular assay reagents intended to identify mutations in the excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) gene, located at chromosome 10q11, which is involved in two cell activities: repair of damaged DNA and assisting with transcription. Mutations at this locus have been identified in patients with Cockayne's syndrome type 2 (also known as cerebro-oculo-facio-skeletal syndrome (COFS) and xeroderma pigmentosum.

Entry Terms : "Pena-Shokeir Type II Syndrome Gene Mutation Detection Reagents" , "Cerebro-Oculo-Facial Syndrome Gene Mutation Detection Reagents" , "Cockayne Syndrome Type 2 Gene Mutation Detection Reagents" , "ERCC6 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ERCC6"

UMDC code : 24401

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