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Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation

✍ Scribed by Michel Heusterspreute; Isabelle Derclaye; Jean-Luc Gala; Chris Van Geet; Augustin Ferrant; Yolande Malchaire; Joëlle Thonnard; Jean-Luc Vaerman; M. Philippe


Book ID
106136382
Publisher
Springer
Year
1996
Tongue
English
Weight
24 KB
Volume
98
Category
Article
ISSN
0340-6717

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We have analysed 194 Belgian CF chromosomes using a variety of techniques: AF508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G + A, and N1303K; molecular defects in exons 2, 3 , 4 , 5, 6b, 7, 11, 12, 13, 14a, 14b,