Denigma

BLM mutation

Species: Human (Taxid: 9606)
Factor: BLM
Manipulation: Loss-of-Function, Mutation
Effect:

BLM mutation cuases Bloom syndrom. Individuals with Bloom syndrome have a shortend life expectancy []. Death is primary due to cancer, particulary leukemia and lymphoma [German, 1992]. Bloom syndrome is not a premature aging disease. Bloom syndrome characteristics are grwoth deficiency, sun-snesitivity, telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability [5770175].


References:
  • 5770175: Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.


    • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

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