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

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

Definition : Molecular assay reagents intended to identify mutations in the CREB binding protein (CREBBP) gene, located at chromosome 16p13.3, which encodes for CBP, a transcriptional coactivator involved in embryogenesis, cell differentiation, apoptosis, and proliferation. Mutations at this locus have been identified in patients with Rubinstein-Taybi syndrome.

Entry Terms : "Broad Thumbs-Hallux Syndrome Gene Mutation Detection Reagents" , "Rubinstein-Taybi Syndrome Gene Mutation Detection Reagents" , "CREBBP Gene Mutation Detetction Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CRBBP"

UMDC code : 24374

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