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Tarskaia L. A. Zinchenko R. A. Elchinova G. I. Egorova A. G. Korotov M. N. Basova E. V. Prokopeva A. M. Sivtseva E. N. Nikolaeva E. E. Banshikova E. S. Samarkina M. V. Sannikova A. N. Danilova G. I. Jhelobtsova A. F. Danilova A. P. Popova G. N. 《Russian Journal of Genetics》2004,40(11):1264-1272
The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected. 相似文献
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