Work

Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

Year: 1999

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1097/00125817-199909000-00002

Authors: Ludwine M. Messiaen, Tom Callens, Kyle J. Roux, Geert R. Mortier, Anne De Paepe, Marc Abramowicz, Margaret A. Pericak-Vance, Jeffery M. Vance, Margaret R. Wallace

Institutions: Ghent University Hospital, Ghent University, University of Florida, Université Libre de Bruxelles, Duke University

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Children's Miracle Network Hospitals, Vlaamse regering, National Institutes of Health, U.S. Public Health Service

Award: G641408204

OpenAlex ID: W1968888587

FWCI: 1.651

Cites: 19

Cited by: 38

Related to: 10