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Clinical Heterogeneity and Genotype Phenotype correlations in Hereditary Spastic Paraplegia (HSP) due to Spatacsin mutations (SPG11)

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex HSP classified as SPG11. The gene for SPG11 was localized to chromosome 15q13-q15 and recently mutations in Spatacsin (KIAA1840) were shown to cause the majority of SP...

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Detalhes bibliográficos
Publicado no:Eur J Neurol
Main Authors: Paisan-Ruiz, Coro, Nath, Priti, Wood, Nick W., Singleton, Andrew, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254873/
https://ncbi.nlm.nih.gov/pubmed/18717728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-1331.2008.02247.x
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