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Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Abstract:

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) maps to the SPG11 locus in the majority of cases. Mutations in the KIAA1840 gene, encoding spatacsin, have been shown to underlie SPG11-linked HSP-TCC. The aim of this study was to perform candidate gene analysis in HSP-TCC subjects from Asian families and to characterize disruption of spatacsin function during zebrafish development. Homozygosity mapping and direct sequencing were used to assess the ACCPN, S...

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Publication status:
Published

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Publisher copy:
10.1007/s10048-010-0243-8

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Journal:
Neurogenetics
Volume:
11
Issue:
4
Pages:
379-389
Publication date:
2010-10-05
DOI:
EISSN:
1364-6753
ISSN:
1364-6745
URN:
uuid:8be95849-948b-44a8-b9c5-96a226b4290e
Source identifiers:
243822
Local pid:
pubs:243822

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