CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
Brockmann, Sarah J, Freischmidt, Axel, Oeckl, Patrick, Müller, Kathrin, Ponna, Srinivas K, Helferich, Anika M, Paone, Christoph, Reinders, Jörg, Kojer, Kerstin, Orth, Michael, Jokela, Manu, Auranen, MLanguage:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddx436
Date:
January, 2018
File:
PDF, 1.25 MB
english, 2018