ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Authors:
Panza, E Escamilla-Honrubia, JM Marco-Marin, C Gougeard, N De Michele, G Morra, VB Liguori, R Salviati, L Donati, MA Cusano, R Pippucci, T Ravazzolo, R Nemeth, AH Smithson, S Davies, S Hurst, JA Bordo, D Rubio, V Seri, M
Citation:
Panza E, etal., Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21.