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Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for β(0) 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent β-thalassemia) unlinked to the β cluster interacti...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Sollaino, Maria Carla, Paglietti, Maria Elisabetta, Perseu, Lucia, Giagu, Nicolina, Loi, Daniela, Galanello, Renzo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ferrata Storti Foundation 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754962/
https://ncbi.nlm.nih.gov/pubmed/19794088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.005728
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