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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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Detalhes bibliográficos
Publicado no:Arch Neurol
Main Authors: Bakowska, Joanna C., Wang, Heng, Xin, Baozhong, Sumner, Charlotte J., Blackstone, Craig
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Acesso em linha: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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