Associated Papers
A high proportion of germline variants in pediatric chronic myeloid leukemia.
Krumbholz M et al.
Molecular Cancer, 2024
39327604 (PubMed )
Supplement: 12943_2024_2109_MOESM2_ESM.xlsx › Suppl_Table_6
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.
Yesilaltay A et al.
Medicine, 2022
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.
Gross M et al.
British Journal of Haematology, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
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 C et al.
European Journal of Haematology, 2013
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