Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

BACKGROUND: Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and the genotype-phenotype correlations of this entity in order to, first, screen i...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4845427/
https://ncbi.nlm.nih.gov/pubmed/27112265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0432-0
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