Source:http://linkedlifedata.com/resource/lhgdn/association:5884
Subject | Predicate | Object | Context |
---|---|---|---|
lhgdn:association:5884 | lhgdn:found_in | pubmed-article:12624138 | lld:lhgdn |
lhgdn:association:5884 | lhgdn:geneRifSource | The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase. | lld:lhgdn |
lhgdn:association:5884 | lhgdn:mesh_code | D009084 | lld:lhgdn |
lhgdn:association:5884 | lhgdn:associationIdType | http://http://linkedlifedat... | lld:lhgdn |
lhgdn:association:5884 | lhgdn:umls_code | umls-concept:C0086647 | lld:mappings |
entrez-gene:2799 | lhgdn:associationId | lhgdn:association:5884 | lld:lhgdn |