Source:http://linkedlifedata.com/resource/lhgdn/association:52264
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG > TAT (tyrosine), TAG > CAG (glutamine) and TAG > TGG (tryptophan).
|
| lhgdn:mesh_code |
D017696
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |