Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

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：