IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SHH
Definition : Molecular assay reagents intended to identify mutations in the sonic hedgehog homologue (SHH) gene, located at chromosome 7q36, which encodes for a protein that is important in embryonic development and differentiation. This inherited genetic mutation has been identified in patients with ocular coloboma, holoprosencephaly type 3.
Entry Terms : "Holoprosencephaly-3 (HPE-3) Gene Mutation Reagents" , "SHH Gene Mutation Detection Reagents" , "Holoprescencephaly-3 (HPE-3) Associated Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SHH"
UMDC code : 24962