Molecular characterization of β-thalassemia in Hungary

We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslova...

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Veröffentlicht in:	Human genetics 1993-10, Vol.92 (4), p.385-387
Hauptverfasser:	RINGELHANN, B, SZELENYI, J. G, HORANYI, M, SVOBODOVA, M, DIVOKY, V, INDRAK, K, HOLLAN, S, MAROSI, A, LAUB, M, JUISMAN, T. H. J
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Anemias. Hemoglobinopathies Base Sequence beta chain beta-Thalassemia - epidemiology beta-Thalassemia - genetics Biological and medical sciences Codon Diseases of red blood cells DNA - analysis Frameshift Mutation - genetics genes Globins - genetics Hematologic and hematopoietic diseases hemoglobin heterozygosity Humans Hungary - epidemiology man Medical sciences Molecular Biology Molecular Sequence Data mutation Oligonucleotide Probes thalassemia
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