Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizures, psychomotor decline, and loss of vision....

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Detalles Bibliográficos
Autores principales: Kozina, Anastasiya A., Okuneva, Elena G., Baryshnikova, Natalia V., Kondakova, Olga B., Nikolaeva, Ekaterina A., Fedoniuk, Inessa D., Mikhailova, Svetlana V., Krasnenko, Anna Y., Stetsenko, Ivan F., Plotnikov, Nikolay A., Klimchuk, Olesia I., Popov, Yaroslav V., Surkova, Ekaterina I., Shatalov, Peter A., Rakitko, Alexander S., Ilinsky, Valery V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336735/
https://www.ncbi.nlm.nih.gov/pubmed/32412666
http://dx.doi.org/10.1002/mgg3.1228

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