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DNA has been prepared from peripheral blood or cultured skin fibroblasts obtained from three Sicilian and one Greed deltabeta-thalassemia homozygotes. Globin-gene analysis was carried out using a cDNAbeta probe, and the results indicate that deltabeta-thalassemia has arisen from a deletion of the beta-globin genes. A similar result was obtained using DNA prepared from cultured skin fibroblasts from an individual homozygous for the Negro form of hereditary persistence of fetal hemoglobin (HPFH). In both cases, the deletion has spared the Ggamma and Agamma loci directing the gamma chains of hemoglobin F, but it has not been possible to demonstrate any difference between the size of the deletion involved in the production of delta-beta-thalassemia and that which gave rise to HPFH. These experiments provide further direct evidence that deletions of critical areas of the gamma-delta-beta gene cluster result in persistent gamma chain synthesis in adult life.
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P Comi, and
B Giglioni, and
P Tolstoshev, and
W G Lanyon, and
G J Mitchell, and
R Williamson, and
G Russo, and
S Musumeci, and
G Schillro, and
G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
April 1990,
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P Comi, and
B Giglioni, and
P Tolstoshev, and
W G Lanyon, and
G J Mitchell, and
R Williamson, and
G Russo, and
S Musumeci, and
G Schillro, and
G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
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B Giglioni, and
P Tolstoshev, and
W G Lanyon, and
G J Mitchell, and
R Williamson, and
G Russo, and
S Musumeci, and
G Schillro, and
G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
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G Russo, and
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G Schillro, and
G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
September 1983,
American journal of human genetics,
S Ottolenghi, and
P Comi, and
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G Russo, and
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G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
October 1985,
The Journal of clinical investigation,
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S Musumeci, and
G Schillro, and
G A Tsistrakis, and
S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
September 1979,
The Journal of clinical investigation,
S Ottolenghi, and
P Comi, and
B Giglioni, and
P Tolstoshev, and
W G Lanyon, and
G J Mitchell, and
R Williamson, and
G Russo, and
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G Schillro, and
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S Charache, and
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D J Weatherall
January 1996,
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D J Weatherall
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Biochemical and biophysical research communications,
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D J Weatherall
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S Charache, and
W G Wood, and
J B Clegg, and
D J Weatherall
February 1988,
Blood,
