*Result*: The spectrum of KIAA0196 variants, and characterization of a murine knockout
*Title*:
The spectrum of KIAA0196 variants, and characterization of a murine knockout : : implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
*Author/editor-in-chief*:
Jahic, Amir (Verfasser); Khundadze, Mukhran (Verfasser); Jaenisch, Nadine (Verfasser); Schüle-Freyer, Rebecca (Verfasser) ; Klimpe, Sven (Verfasser) ; Klebe, Stephan (Verfasser) ; Frahm, Christiane (Verfasser) ; Kassubek, Jan Rainer (Verfasser) ; Stevanin, Giovanni (Verfasser); Schöls, Ludger (Verfasser) ; Brice, Alexis (Verfasser); Hübner, Christian (Verfasser) ; Beetz, Christian (Verfasser)
*Publication*:
Freiburg : Universität, 2025
*Physical description scale*:
1 Online-Ressource
*Format*:
*Language*:
*eng*
*Notes*:
Orphanet journal of rare diseases. - 10, 1 (2015) , 147, ISSN: 1750-1172
*DOI*:
10.1186/s13023-015-0359-x