Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| calbc:hasCorrelation | |
| skos:definition |
NCI: Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes collagen alpha-1 (I) chain protein, is involved in both the development and maintenance of tendon, ligaments and bones. Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types. In cases of dermatofibrosarcoma protuberans the gene is involved in a translocation t(17;22)(q22;q13) with the PDGF gene. (SwissProt)
|
| skos:inScheme | |
| skos-xl:prefLabel | |
| skos-xl:altLabel |