Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the −3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the...

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Autors principals: Badens, Catherine, Joly, Philippe, Agouti, Imane, Thuret, Isabelle, Gonnet, Katia, Fattoum, Synda, Francina, Alain, Simeoni, Marie-Claude, Loundou, Anderson, Pissard, Serge
Format: Artigo
Idioma:Inglês
Publicat: Ferrata Storti Foundation 2011
Matèries:
Brief Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208691/
https://ncbi.nlm.nih.gov/pubmed/21791466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.046748
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