Source:http://linkedlifedata.com/resource/lhgdn/association:5884
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| 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.
|
| lhgdn:mesh_code |
D009084
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |