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COL3A1

Friday 6 January 2017

Pathology

- COL3A1 germline mutations in :

  • Ehlers-Danlos syndrome type III (MIM.130020)
  • COL3A1 : type IV Ehlers-Danlos syndrome (MIM.130050)
  • COL3A1 : aortic aneurysms (MIM.100070)
  • COL3A1 : dissecting aneurysm and generalized fibromuscular dysplasia (MIM.135580)

IHC use

- Collagen type III α1 is a useful diagnostic immunohistochemical marker for fibroepithelial lesions of the breast doi : 10.1016/j.humpath.2016.07.017

See also

- COLs