Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene

@article{Bashyam2004MolecularGA,
  title={Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene},
  author={Mural Dharan Bashyam and Leena Bashyam and Gorinabele R. Savithri and Munimanda Gopikrishna and Vartul Sangal and Akela Radha Rama Devi},
  journal={Journal of Human Genetics},
  year={2004},
  volume={49},
  pages={408-413}
}
Abstractβ-thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal diagnosis. In the present study, the prevalence of β-thalassemia was extensively investigated in the South Indian population, especially from the state of Andhra Pradesh. Screening for causal mutations was carried out on genomic DNA isolated from patient blood samples by using the routine reverse dot blot (RDB) and amplification… CONTINUE READING

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