Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TCOF1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TCOF1

Definition : Molecular assay reagents intended to identify mutations in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene, located at chromosome 5q32-q33.1, which encodes for a nucleolar protein that is involved in ribosomal DNA gene transcription and may be fundamental in early embryonic development, particularly in development of the craniofacial complex. This inherited genetic mutation has been identified in patients who have Treacher Collins syndrome (TCS).

Entry Terms : "Treacher Collins_Franceschetti Syndrome Gene Mutation Reagents" , "Mandibulofacial Dysotosis Gene Mutation Reagents" , "Treacher Collins Syndrome (TCS) Gene Mutation Reagents" , "TCOF1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TCOF1"

UMDC code : 24985

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