Source:http://linkedlifedata.com/resource/lhgdn/association:54072
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
2 new heterozygous missense transitions (C2794T, G3151C) were found in the POLG gene in a family with an autosomal recessive syndrome: progressive external ophthalmoplegia, polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders.
|
| lhgdn:mesh_code |
D006319
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |