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

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

Definition : Molecular assay reagents intended to identify mutations in the cone-rod homeobox (CRX) gene, located at chromosome 19q13.3, which encodes for a protein that is a photoreceptor-specific transcription factor involved in the differentiation of photoreceptor cells. Mutations at this locus have been identified in patients with Leber's congenital amaurosis and cone-rod dystrophy 2 (CORD2).

Entry Terms : "Cone-Rod Retinal Dystrophy Gene Mutation Detection Reagents" , "Retinitis Pigmentosa Gene Mutation Detection Reagents" , "Leber Congenital Amaurosis Gene Mutation Detection Reagents" , "CRX Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CRX"

UMDC code : 24375

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