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Reagents, Molecular Assay, Gene Anomaly, Mutation, DHCR7

Definition : Molecular assay reagents intended to identify mutations in the 7-dehydrocholesterol reductase (DHCR7) gene, located at chromosome 11q13.2-q13.5, which encodes for the enzyme 7-dehyrocholesterol reductase, responsible for the final step in cholesterol production in many types of cells. Mutations at this locus have been identified in infants with early-onset congenital Smith-Lemli-Opitz syndrome.

Entry Terms : "7-Dehydrocholesterol Reductase Deficiency Gene Mutation Detection Reagents" , "RSH Syndrome Gene Mutation Detection Reagents" , "Rutledge Lethal Multiple Congenital Anomaly Syndrome (RLMCAS) Gene Mutation Detection Reagents" , "Smith-Lemli-Opitz Syndrome (SLOS) Gene Mutation Detection Reagents" , "DHCR7 Gene Mutation Detection Reagents"

UMDC code : 24383

   

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