KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

BACKGROUND: Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal domina...

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Vydáno v:BMC Neurol
Hlavní autoři: Rudenskaya, G. E., Kadnikova, V. A., Ryzhkova, O. P., Bessonova, L. A., Dadali, E. L., Guseva, D. S., Markova, T. V., Khmelkova, D. N., Polyakov, A. V.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7398351/
https://ncbi.nlm.nih.gov/pubmed/32746806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01872-4
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