Výsledky vyhledávání - "A. M. Nedoboy"

Determining the frequency of common mutations in the GBA gene in patients with Gaucher disease in Ukraine

Autor: N. G. Gorovenko, A. M. Nedoboy, N. V. Olkhovich, N O Pichkur

Publikováno v: Cytology and Genetics. 41:230-236

A molecular-genetics investigation is conducted on 27 patients from 26 families. Common mutations in the GBA gene (N370S, L444P, and 84GG) are studied. The overall frequency of the common mutations is nearly 58%, with the percentage of alleles that c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::abc9def72d102f7d919fb7daca37af76
https://doi.org/10.3103/s009545270704007x

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