KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Auteurs | Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi K H, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G |
Revue | |
Institut | IG |
Année | 2 012 |