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Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-15 , DOI: 10.1002/mgg3.1228
Anastasiya A Kozina 1, 2 , Elena G Okuneva 3 , Natalia V Baryshnikova 2, 3 , Olga B Kondakova 4 , Ekaterina A Nikolaeva 5 , Inessa D Fedoniuk 6 , Svetlana V Mikhailova 6 , Anna Y Krasnenko 3 , Ivan F Stetsenko 3 , Nikolay A Plotnikov 3 , Olesia I Klimchuk 3 , Yaroslav V Popov 3 , Ekaterina I Surkova 3 , Peter A Shatalov 3, 5 , Alexander S Rakitko 3, 7 , Valery V Ilinsky 1, 2, 3, 8
Affiliation  

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.

中文翻译:

俄罗斯人群中的神经元蜡样脂褐质沉着症:两种新突变和杂合子携带者的流行。

神经元蜡样脂褐质 (NCL) 是一组神经退行性疾病,其特征是脂褐质在身体组织中的积累。NCL 与不同的发病年龄和进行性症状相关,包括癫痫发作、精神运动衰退和视力丧失。
更新日期:2020-07-06
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