L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
2004
Topcu, M., Jobard, F., Halliez, S., Coskun, T., Yalcinkayal, C., Gerceker, F.O., Wanders, R.J., Prud'homme, J.F., Lathrop, M., Ozguc, M. and Fischer, J.:
Hum Mol Genet 13 (2004) 2803-11.