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

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Year: 2014
Type: article
Source: Journal of Neurology
DOI: 10.1007/s00415-014-7265-3
Authors: Zheng Fan, Robert Greenwood, Ana C. G. Felix, Yael Shiloh-Malawsky, Michael Tennison, Myra Roche, Kristy Crooks, Karen Weck, Kirk Wilhelmsen, Jonathan Berg, James Evans
Institution: University of North Carolina at Chapel Hill
Language: English

Topic: Hereditary Neurological Disorders
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Human Genome Research Institute
Award: North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2
OpenAlex ID: W1828447909
FWCI: 1.066
Cites: 12
Cited by: 25
Related to: 10
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