Association of MPL K39N and R102P heterozygous germline mutations lead to hereditary thrombocytosis
Am J Hematol
.
2024 Aug;99(8):1644-1646.
doi: 10.1002/ajh.27368.
Epub 2024 May 16.
Authors
Emeline Voirin
1
2
,
Anne Bouvier
1
,
Isabelle Plo
3
,
Léa Durix
3
,
Annaëlle Beucher
1
,
Stephane Giraudier
4
,
Valérie Ugo
1
,
Jean-François Brasme
5
,
Damien Luque Paz
1
Affiliations
1
Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France.
2
Laboratoire d'Hématologie, CHU Tours, Tours, France.
3
INSERM, UMR 1287, Gustave Roussy, Université Paris Saclay, Villejuif, France.
4
Cellular biology Department, Saint-Louis Hospital, APHP, Université Paris Cité, Paris, France.
5
CHU Angers, Unité d'Onco-Hémato-Immunologie pédiatrique, Angers, France.
PMID:
38752375
DOI:
10.1002/ajh.27368
No abstract available
Publication types
Letter
Case Reports
MeSH terms
Adult
Female
Germ-Line Mutation*
Heterozygote*
Humans
Male
Pedigree
Receptors, Thrombopoietin* / genetics
Thrombocytosis* / genetics
Substances
Receptors, Thrombopoietin
MPL protein, human