Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SIX3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SIX3

Definition : Molecular assay reagents intended to identify mutations in the sine oculis homeobox homologue 3 (SIX3) gene, located at chromosome 2p16-p21, which encodes for a protein involved in the regulation of eye development. This inherited genetic mutation has been identified in patients with holoprosencephaly-2.

Entry Terms : "Microphthalmia Gene Mutation Reagents" , "Anophthalmia Gene Mutation Reagents" , "Holopresencephaly-2 (HPE-2) Gene Mutation Reagents" , "SIX3 Gene Mutation Detection Reagents" , "Holoprescencephaly-3 (HPE-3) Associated Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SIX3"

UMDC code : 24965

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