GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Author: Fan Zheng   Greenwood Robert   Felix Ana   Shiloh-Malawsky Yael   Tennison Michael   Roche Myra   Crooks Kristy   Weck Karen   Wilhelmsen Kirk   Berg Jonathan   Evans James  

Publisher: Springer Publishing Company

ISSN: 0340-5354

Source: Journal of Neurology, Vol.261, Iss.3, 2014-03, pp. : 622-624

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