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Lack of Spartin Protein in Troyer Syndrome: A Loss-of-Function Disease Mechanism?
BACKGROUND: Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature...
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| Udgivet i: | Arch Neurol |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2008
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5580255/ https://ncbi.nlm.nih.gov/pubmed/18413476 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneur.65.4.520 |
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