Work

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Year: 2000

Type: article

Source: Nature Genetics

DOI: 10.1038/76102

Authors: Olivier Le Saux, Zsolt Urban, Cordula Tschuch, Katalin Csiszar, Barbara Bacchelli, Daniela Quaglino, Ivonne Pasquali-Ronchetti, F. Michael Pope, Allan Richards, Sharon Terry, Lionel Bercovitch, Anne de Paepe, Charles D. Boyd

Institutions: University of Hawaiʻi at Mānoa, University of Hawaii System, University of Modena and Reggio Emilia, University of Cambridge, University Hospital of Wales, Brown University, Ghent University Hospital

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Eye Institute, National Center for Research Resources

Awards: ELASTIN GENE DEFECTS IN PSEUDOXANTHOMA ELASTICUM, G311346361, G3910707351, ELASTIC FIBER DEFECTS IN PSEUDOXANTHOMA ELASTICUM, G832860652

OpenAlex ID: W1496990746

FWCI: 16.13

Cites: 27

Cited by: 540

Related to: 10