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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia (HSP)

OBJECTIVE: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex HSP. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently the gene encoding spatacsin (KIAA1840), has be...

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Bibliographische Detailangaben
Hauptverfasser: Paisan-Ruiz, Coro, Dogu, Okan, Yilmaz, Arda, Houlden, Henry, Singleton, Andrew
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2730021/
https://ncbi.nlm.nih.gov/pubmed/18337587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000294327.66106.3d
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