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Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.

We describe a Canadian family of Czechoslovakian descent that came to our attention because of an HbA2 percentage approximately twice that of an average case of heterozygous beta-thalassemia. This unique phenotype suggested to us the possibility of a novel genetic mechanism being responsible for the...

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Autors principals: Popovich, B W, Rosenblatt, D S, Kendall, A G, Nishioka, Y
Format: Artigo
Idioma:Inglês
Publicat: 1986
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684120/
https://ncbi.nlm.nih.gov/pubmed/3799598
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