Výsledky vyhledávání - "N S, Osinovskaia"

[Analysis of the spectra of mutational damage of the 21-hydroxylase gene in patients with adreno-genital syndrome]

Autor: N S, Osinovskaia, T E, Ivashchenko, E L, Soboleva, V S, Baranov, V V, Potin, E V, Plotnikova

Publikováno v: Genetika. 36(8)

The spectrum of mutations in the steroid 21-hydroxylase gene (CYP21B) and the frequency of 11 mutations among 66 patients with different forms of congenital adrenal hyperplasia (CAH) were analyzed by means of PCR amplification. Each of the CAH forms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::90f23ff40292dc13a910db7c54784e48
https://pubmed.ncbi.nlm.nih.gov/11033787

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[Molecular-genetic analysis of tandem repeats in intron 6B of the CFTR gene in various populations and in cystic fibrosis patients]

Autor: K, Agbangla, N S, Osinovskaia, T E, Ivashchenko, V S, Baranov

Publikováno v: Genetika. 28(11)

Frequencies of hexa- and heptatandem tetrameric repeats in Russian slavonians from the North-Western part of the country were found to be 0.19 and 0.81, respectively, with the frequency of heterozygotes estimated as 0.31. Similar values of allelic fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba6884a70ff53a6bc6a13a5b8a8dfe4c
https://pubmed.ncbi.nlm.nih.gov/1286796

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