Work

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Year: 2000

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s004390000285

Authors: Zsolt Urbán, Virginia V. Michels, Stephen N. Thibodeau, Elaine C. Davis, Jean-Paul Bonnefont, Arnold Munnich, Benedicte Eyskens, Marc Gewillig, Koen Devriendt, Charles D. Boyd

Institutions: University of Hawaiʻi at Mānoa, University of Hawaii System, Mayo Clinic, The University of Texas Southwestern Medical Center, Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: American Heart Association, National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Center for Research Resources

Awards: G1747037476, G2436378156, ELASTIN GENE DEFECTS IN PSEUDOXANTHOMA ELASTICUM, G3910707351

OpenAlex ID: W2064046150

FWCI: 2.339

Cites: 61

Cited by: 80

Related to: 10