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loss-of-function genetic disease

Saturday 28 July 2007

Loss-of-function genetic diseases are caused by the impairment of one protein by loss-of-function mutations.

See also

- genetic diseases

  • gain-of-function genetic diseases

- gene mutations

  • loss-of-function mutations
  • gain-of-function mutations

References

- Segalat L. Loss-of-function genetic diseases and the concept of pharmaceutical targets. Orphanet J Rare Dis. 2007 Jul 2;2(1):30 PMID: 17605800