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

✍ Scribed by Fan, Zheng; Greenwood, Robert; Felix, Ana C. G.; Shiloh-Malawsky, Yael; Tennison, Michael; Roche, Myra; Crooks, Kristy; Weck, Karen; Wilhelmsen, Kirk; Berg, Jonathan; Evans, James

• Book ID: 121533244
• Publisher: Springer
• Year: 2014
• Tongue: English
• Weight: 419 KB
• Volume: 261
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/s00415-014-7265-3