Work

Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene

Year: 2022

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s00439-022-02458-5

Authors: Carol J. Gallione, Matthew R. Detter, Adrienne Sheline, Henrietta M. Christmas, Cornelia Lee, Douglas A. Marchuk

Institutions: Duke University, Duke Medical Center, Angioma Alliance

Language: English

Topic: Vascular Malformations Diagnosis and Treatment

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Foundation for the National Institutes of Health, University of Connecticut, National Institutes of Health, National Institute of Neurological Disorders and Stroke

Awards: G246717114, Signaling Aberrations and Cerebral Cavernous Malformation Pathogenesis, G9000049242

OpenAlex ID: W4225257406

FWCI: 0.395

Cites: 24

Cited by: 3

Related to: 10