Source:http://linkedlifedata.com/resource/lhgdn/association:28453
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
the novel Metachromatic leukodystrophy- causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form Metachromatic leukodystrophy
|
| lhgdn:mesh_code |
D007966
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |