A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)
Author:
Funder
Medical Education & Research Cell, PGIMER
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12288-023-01668-9.pdf
Reference25 articles.
1. Mallik N, Das R, Malhotra P, Sharma P (2021) Congenital erythrocytosis. Eur J Haematol 107:29–37. https://doi.org/10.1111/ejh.13632
2. McMullin MF, Bareford D, Campbell P et al (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol 130:174–195. https://doi.org/10.1111/j.1365-2141.2005.05535.x
3. Wang J, Hayashi Y, Yokota A et al (2018) Expansion of EPOR-negative macrophages besides erythroblasts by elevated EPOR signaling in erythrocytosis mouse models. Haematologica 103:40–50. https://doi.org/10.3324/haematol.2017.172775
4. Bento C, Percy MJ, Gardie B et al (2014) Genetic basis of congenital erythrocytosis: mutation update and online databases. Hum Mutat 35:15–26. https://doi.org/10.1002/humu.22448
5. Lee FS (2008) Genetic causes of erythrocytosis and the oxygen-sensing pathway. Blood Rev 22:321–332. https://doi.org/10.1016/j.blre.2008.04.003
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