Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on chromosome 8p24.13. The three families previously linked to the SPG8 locus present with relatively severe, pure spastic paraplegia. We have identified three mutations in the...

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Auteurs principaux: Valdmanis, Paul N., Meijer, Inge A., Reynolds, Annie, Lei, Adrienne, MacLeod, Patrick, Schlesinger, David, Zatz, Mayana, Reid, Evan, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2007
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785307/
https://ncbi.nlm.nih.gov/pubmed/17160902
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