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. 2025 Feb 1;110(2):485-487.
doi: 10.3324/haematol.2024.285329.

Unraveling the germline inheritance of the JAK2 F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance

Manja Meggendorfer  1 , Torsten Haferlach  2 , Maria K Beykirch  3 , Petro E Petrides  4
Affiliations

Unraveling the germline inheritance of the JAK2 F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance

Manja Meggendorfer et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
Pedigree of the initial patient. Initial patient marked in light blue. Red sex symbols represent patients with thrombocytosis. Thrombocytosis was based on platelet counts exceeding 400x109/L following standard diagnostics. Platelet counts are given. +/- indicate the JAK2 F556V alteration tested with either detection (+) or no detection (-). The orange background of JAK2 mutation status (+/-) shows the germline confirmation by detection in buccal swap and nail clippings. Light gray boxes show married-in family members. The year of birth of the patient is indicated where known.
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