Zobrazeno 1 - 2
of 2
pro vyhledávání: '"E. G. Ravzhaeva"'
Publikováno v:
Русский журнал детской неврологии, Vol 18, Iss 2-3, Pp 31-37 (2023)
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for p
Externí odkaz:
https://doaj.org/article/5ceaa0ba431e4a7f83d400cd123f7a8d
Autor:
A. A. Sivtsev, I. Zh. Zhalsanova, A. E. Postrigan, E. A. Fonova, O. Yu. Vasilyeva, A. A. Zarubin, L. I. Minaicheva, A. A. Agafonova, V. V. Petrova, E. G. Ravzhaeva, O. A. Salyukova, N. A. Skryabin
Publikováno v:
Russian Clinical Laboratory Diagnostics. 67:250-256
The study aimed to search for mutations in the ATP7B gene using massively parallel sequencing in patients with Wilson disease in the Tomsk region. For 42 patients with suspected Wilson’s disease (aged from 1 to 33 years) was performed molecular gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d39e7bade4661d17067f14088ec93b
https://doi.org/10.51620/0869-2084-2022-67-4-250-256
https://doi.org/10.51620/0869-2084-2022-67-4-250-256