Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anna M. Kremer"'
Autor:
Thomas H. Gillingwater, Caroline Wardrope, Christos G. Gkogkas, Paul Skehel, Anna M. Kremer, Matthew J. Hannah, Susan Middleton
Publikováno v:
Gkogkas, C, Middleton, S, Kremer, A M, Wardrope, C, Hannah, M, Gillingwater, T H & Skehel, P 2008, ' VAPB interacts with and modulates the activity of ATF6 ', Human Molecular Genetics, vol. 17, no. 11, pp. 1517-1526 . https://doi.org/10.1093/hmg/ddn040
A mis-sense point mutation in the human VAPB gene is associated with a familial form of motor neuron disease that has been classified as Amyotrophic Lateral Sclerosis type VIII. Affected individuals suffer from a spinal muscular atrophy (SMA), amyotr