KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
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| Description | scientific article |
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author: Ruth Sheffer Khalid Hamid El Hachimi Alexandra Durr Emeline Mundwiller Wassila Carpentier Giovanni Stevanin Cecilia Marelli Gabor Gyapay Agnès Rastetter Israela Lerer Elodie Martin Alexis Brice Magdalena Nawara Delphine Bouteiller Adel Misk Alexander Lossos Stephan Klebe Hamid Azzedine |
| Publication date | January 18, 2012 |
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