The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

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The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Author: Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schuele, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schoels, Ludger; Brice, Alexis; Huebner, Christian A.; Beetz, Christian
Tübinger Autor(en):
Schüle-Freyer, Rebecca
Schöls, Ludger
Published in: Orphanet Journal of Rare Diseases (2015), Bd. 10, Article 147
Verlagsangabe: Biomed Central Ltd
Language: English
Full text: http://dx.doi.org/10.1186/s13023-015-0359-x
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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