Work

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Year: 1996

Type: article

Study design: Case Report

Source: Human Genetics

DOI: 10.1007/s004390050109

Authors: Benjamin B. Roa, Frank Greenberg, Preethi Gunaratne, Christine M. Sauer, Mark S. Lubinsky, Chahira Kozma, Jeanne M. Meck, R. Ellen Magenis, Lisa G. Shaffer, J. R. Lupski

Institutions: Baylor College of Medicine, 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

OpenAlex ID: W3200916883

FWCI: 0.271

Cites:

Cited by: 14

Related to: 10