GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia
Fan, Zheng, Greenwood, Robert, Felix, Ana C. G., Shiloh-Malawsky, Yael, Tennison, Michael, Roche, Myra, Crooks, Kristy, Weck, Karen, Wilhelmsen, Kirk, Berg, Jonathan, Evans, JamesVolume:
261
Language:
english
Journal:
Journal of Neurology
DOI:
10.1007/s00415-014-7265-3
Date:
March, 2014
File:
PDF, 419 KB
english, 2014