The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)

Autor:	L. A. Tarskaia, R. A. Zinchenko, G. I. Elchinova, A. G. Egorova, M. N. Korotov, E. V. Basova, A. M. Prokopeva, E. N. Sivtseva, E. E. Nikolaeva, E. S. Banshikova, M. V. Samarkina, A. N. Sannikova, G. I. Danilova, A. F. Jhelobtsova, A. P. Danilova, G. N. Popova
Rok vydání:	2004
Předmět:	Genetics Pathology medicine.medical_specialty education.field_of_study symbols.namesake Population medicine Mendelian inheritance symbols Biology education
Zdroj:	Scopus-Elsevier
ISSN:	1022-7954
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eca322e92b7e6562fa5acc6d3269b1a https://doi.org/10.1023/b:ruge.0000048669.22362.1c Zobrazit plný text záznamu Full text from SpringerLink