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Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

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Year: 1996
Type: article
Study design: Case Report
Source: Human Genetics
DOI: 10.1007/bf02281876
Authors: Benjamin B. Roa, Frank Greenberg, Preethi Gunaratne, Lisa G. Shaffer, James R. Lupski, Christine M. Sauer, Mark S. Lubinsky, Chahira Kozma, Jeanne M. Meck, R. Ellen Magenis
Institutions: Baylor College of Medicine, National Institutes of Health, National Human Genome Research Institute, Children's Hospital of Wisconsin, Medical College of Wisconsin, Georgetown University Medical Center, Oregon Health & Science University
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: closed

Funder: National Institute of Neurological Disorders and Stroke
Award: G2875609050
OpenAlex ID: W4321428342
FWCI: 0.412
Cites: 40
Cited by: 10
Related to: 10
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