Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity.

@article{Chouk2004ContributionTT,
  title={Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity.},
  author={Imen Chouk and B{\'e}chir Ben Daoud and Fethi Mellouli and Mohamed Bejaoui and Nathalie G{\'e}rard and Koussay Dellagi and Salem Abb{\`e}s},
  journal={Hemoglobin},
  year={2004},
  volume={28 3},
  pages={189-95}
}
We determined the spectrum of beta-thalassemia (thal) mutations in 118 affected unrelated patients with different forms of beta-thal. Using a combination of reverse dot-blot analysis, denaturing gradient gel electrophoresis (DGGE), polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) and direct nucleotide sequencing, we identified the largest spectrum of beta-thal mutations so far reported in Tunisia, and to the best of our knowledge, within the Mediterranean Basin. A… CONTINUE READING

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