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Article

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

Journal of neurology - 1 Mar 2014

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

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Identifiers

PMID: 24509643
DOI: 10.1007/s00415-014-7265-3
PMCID: PMC4000021

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.PMID 24509643Read ↗

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