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The C–T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β thalassaemia in the Italian population

✍ Scribed by M. S. Ristaldi; S. Murru; G. Loudianos; L. Casula; S. Porcu; D. Pigheddu; B. Fanni; G. V. Sciarratta; S. Agosti; M. I. Parodi; D. Leone; C. Camaschella; A. Serra; M. Pirastu; A. Cao


Book ID
114712128
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
890 KB
Volume
74
Category
Article
ISSN
0007-1048

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We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the be