Genetic epidemiological study of Bashkortostan Republic: The diversity of monogenic hereditary diseases in five districts

@article{Zinchenko2009GeneticES,
  title={Genetic epidemiological study of Bashkortostan Republic: The diversity of monogenic hereditary diseases in five districts},
  author={Rena A Zinchenko and S. Sh. Murzabaeva and Ya. I. Greenberg and Varvara A. Galkina and Olga V Khlebnikova and Elena L. Dadali and Valeriy Fedotov and I. M. Hidiyatova and E. K. Khusnutdinova and Evgenii Konstantinovich Ginter},
  journal={Russian Journal of Genetics},
  year={2009},
  volume={45},
  pages={593-604}
}
The diversity of monogenic hereditary diseases (HDs) (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been studied in five districts of Bashkortostan Republic: Burzyanskii, Abzelilovskii, Baimak, Salavatskii, and Arkhangel’skoe raions. The spectrum of HDs comprised 144 diseases, including 83, 48, and 13 AD, AR, and X-linked diseases. Most of them were found earlier during studies in ten other regions of Russia (Kirov, Kostroma, Tver’, Bryansk, and Rostov oblasts… CONTINUE READING
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