Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers-Reference-Cited by-同舟云学术

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

Published:2020-05-15 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kozina Anastasiya A.¹²,Okuneva Elena G.³,Baryshnikova Natalia V.²³,Kondakova Olga B.⁴,Nikolaeva Ekaterina A.⁵,Fedoniuk Inessa D.⁶,Mikhailova Svetlana V.⁶,Krasnenko Anna Y.³^ORCID,Stetsenko Ivan F.³^ORCID,Plotnikov Nikolay A.³,Klimchuk Olesia I.³,Popov Yaroslav V.³,Surkova Ekaterina I.³^ORCID,Shatalov Peter A.³⁵,Rakitko Alexander S.³⁷^ORCID,Ilinsky Valery V.¹²³⁸^ORCID

Affiliation:

1. Institute of Biomedical Chemistry Moscow Russia

2. Pirogov Russian National Research Medical University Moscow Russia

3. Genotek Ltd. Moscow Russia

4. Scientific and Practical Centre of Pediatric Psychoneurology of Moscow Healthcare Department Moscow Russia

5. Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University Moscow Russia

6. Russian Children’s Clinical Hospital Moscow Russia

7. Faculty of Mechanics and Mathematics Lomonosov Moscow State University Moscow Russia

8. Vavilov Institute of General Genetics Moscow Russia

Funder

State Academies of Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1228

Reference44 articles.

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3. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

4. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis;Barisić N.;Croatia Medical Journal,2003

5. Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study

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