Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews

beta -Thalassemia is an autosomal recessive disease characterized by severe anemia beginning in infancy, which is caused by diminished or absent beta -globin chain synthesis. The high prevalence of thalassemia in malaria infested regions led Haldane to propose that heterozygotes for this lethal dise...

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Veröffentlicht in:	Human mutation 1993, Vol.2 (2), p.155-157
Hauptverfasser:	Oppenheim, Ariella, Oron, Varda, Filon, Dvora, Fearon, Clare C., Rachmilewitz, Eliezer A., Kazazian Jr, Haig H., Rund, Deborah
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Base Sequence beta chain beta-Thalassemia - genetics DNA - genetics DNA Mutational Analysis Frameshift Mutation Humans Israel Jews - genetics man Molecular Sequence Data mutation thalassemia
Online-Zugang:	Volltext
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