PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) (ALDH5A1) gene, located at chromosome 6p22.2-p22.3, which is involved in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). Mutations at this locus have been identified in most patients with succinic semialdehyde dehydrogenase (SSADH) deficiency and 4-hydroxybutyric aciduria.
?: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/C3689920_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/C3689920_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all