PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene, located at chromosome 6p21.3, which encodes for the manufacture of an enzyme steroid 21 hydroyxlase that belongs to the cytochrome P450 family of enzymes. P450 cytochrome is involved in the processing of ingested drugs and synthesizing of cholesterol, steroid hormones, and lipids. Mutations at this locus have been identified in patients with several types of congenital adrenal hyperplasia (CAH), including salt wasting (SW) and simple virilizing (SV) types.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C3689839_UMD>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C3689839_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all