Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience

Author:

Oliveira Jennifer L.1ORCID,Coon Lea M.1,Frederick Lori A.1,Hein Molly1,Swanson Kenneth C.1,Savedra Michelle E.1,Porter Tavanna R.1,Patnaik Mrinal M.2ORCID,Tefferi Ayalew2ORCID,Pardanani Animesh2,Grebe Stefan K.1,Viswanatha David S.1,Hoyer James D.1

Affiliation:

1. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

2. Department of Hematology; Mayo Clinic; Rochester Minnesota

Publisher

Wiley

Subject

Hematology

Reference44 articles.

1. The complete evaluation of erythrocytosis: congenital and acquired;Patnaik;Leukemia.,2009

2. Evaluation of “increased” hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests;Tefferi;Mayo Clin Proc.,2007

3. Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?);Bento;Eur J Haematol.,2013

4. [Familial erythrocytosis among the residents of the Chuvash ASSR];Poliakova;Probl Gematol Pereliv Krovi.,1974

5. Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia;Sokol;Exp Hematol.,1994

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