A clinical case of ischemic stroke in a young patient with a previously undescribed nucleotide sequence c.808T > C (p.Tyr270His of the GLBI gene (NM_ 000404.3, GMI-gangliosidosis type 2) in a heterozygous state

A clinical case of ischemic stroke in a young patient with a previously undescribed nucleotide sequence c.808T > C (p.Tyr270His of the GLBI gene (NM_ 000404.3, GMI-gangliosidosis type 2) in a heterozygous state

At this stage in the development of medicine, there are difficulties in establishing the etiology of stroke in young patients. There are few significant risk factors from the group of metabolic hereditary diseases in the development of "young" strokes in the literature. This prompts the pu...

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Bibliographic Details
Main Authors: N. V. Komissarova, A. A. Malkova, O. P. Potorochina, A. A. Ovchinnikova, P. O. Ivanina, D. O. Bayusheva
Format: Article
Language:Russian
Published: Private institution educational organization of higher education "Medical University "ReaViz" 2023-07-01
Series:Вестник медицинского института «Реавиз»: Реабилитация, врач и здоровье
Subjects:
gene mutations
hereditary diseases
lysosomal storage diseases
gm1 gangliosidosis
ischemic stroke
Online Access:https://vestnik.reaviz.ru/jour/article/view/708
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