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  • 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.
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