Cargando…
Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation
Erythrocytosis or polycythemia refers to a true or apparent increase in hemoglobin or hematocrit. When no etiology of erythrocytosis is identified, people are diagnosed with “idiopathic erythrocytosis” (IE). The identification of new contributing genes has recently improved the diagnostic workup of...
Autores principales: | Vermeersch, Gaël, Devos, Timothy, Devos, Helena, Lambert, Frédéric, Poppe, Bruce, Van Hecke, Sam |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660405/ https://www.ncbi.nlm.nih.gov/pubmed/38024597 http://dx.doi.org/10.1002/jha2.800 |
Ejemplares similares
-
Low incidence of EPOR mutations in idiopathic erythrocytosis
por: Filser, Mathilde, et al.
Publicado: (2020) -
The role of PHD2 mutations in the pathogenesis of erythrocytosis
por: Gardie, Betty, et al.
Publicado: (2014) -
New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis
por: Pasquier, Florence, et al.
Publicado: (2018) -
Familial cardiolaminopathy due to a previously undescribed LMNA gene mutation
por: Ibarra, R, et al.
Publicado: (2023) -
Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers
por: Boot, Arnoud, et al.
Publicado: (2022)