Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W.
Plecko B, et al. Among authors: erwa w.
Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433.
Hum Mutat. 2007.
PMID: 17068770