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pro vyhledávání: '"E. G. Agapov"'
Autor:
M. I. Yablonskaya, P. V. Novikov, E. G. Agapov, I. V. Zolkina, E. A. Yuryeva, M. N. Kharabadze
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 4, Pp 57-62 (2016)
The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hyp