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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 β0 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 interacting wi...

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Principais autores: Maria Carla Sollaino, Maria Elisabetta Paglietti, Lucia Perseu, Nicolina Giagu, Daniela Loi, Renzo Galanello
Formato: Artigo
Idioma:Inglês
Publicado: Ferrata Storti Foundation 2009-10-01
Series:Haematologica
Acceso en liña:https://haematologica.org/article/view/5382
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