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- Title
Unexplained thrombocytosis: association of Baltimore polymorphism with germline MPL nonsense mutation.
- Authors
Verger, Emmanuelle; Teillet, France; Conejero, Carole; Letort, Gil; Chomienne, Christine; Giraudier, Stephane; Cassinat, Bruno
- Abstract
The article reports on an adult patient who presented with a thrombocytosis with no causes of reactive elevation of platelet counts and no mutation in genetic transcript. MPL gene sequencing led to the discovery of two different MPL heterozygous variants. The K39N variant, also called the Baltimore polymorphism, is linked to thrombocytosis when present in a homozygous state. DNA from the patient showed the heterozygous status and germline origin of both the K39N variant and the MPL mutation.
- Subjects
BLOOD platelet disorders; PLATELET count; GENETIC polymorphisms; HETEROZYGOSITY; GERM cells
- Publication
British Journal of Haematology, 2016, Vol 175, Issue 1, p167
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.13840