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J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8.

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

Author information

1
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA, zhengfan@med.unc.edu.
PMID:
24509643
PMCID:
PMC4000021
DOI:
10.1007/s00415-014-7265-3
[Indexed for MEDLINE]
Free PMC Article

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