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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, ha...
Shranjeno v:
| izdano v: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5359868/ https://ncbi.nlm.nih.gov/pubmed/28327087 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0395-6 |
| Oznake: |
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