Source:http://linkedlifedata.com/resource/lhgdn/association:24328
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
two new mutations in the myophosphorylase gene in Italian patients with McArdle?s disease; both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele
|
| lhgdn:mesh_code |
D006012
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |