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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the...

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Autors principals: Hansen, Jens Jacob, Dürr, Alexandra, Cournu-Rebeix, Isabelle, Georgopoulos, Costa, Ang, Debbie, Nielsen, Marit Nyholm, Davoine, Claire-Sophie, Brice, Alexis, Fontaine, Bertrand, Gregersen, Niels, Bross, Peter
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2002
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC447607/
https://ncbi.nlm.nih.gov/pubmed/11898127
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