familial erythrocytosis

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Genetics

Laboratory

* not so in familial erythrocytosis type 1

More general terms

More specific terms

References

  1. 1.0 1.1 Zmajkovic J, Lundberg P, Nienhold R et al A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. N Engl J Med 2018; 378:924-930. March 8, 2018 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29514032 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1709064