Work

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Year: 2001

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/323704

Authors: Olivier Le Saux, Konstanze Beck, Christine Sachsinger, Chiara Silvestri, Carina Treiber, Harald H.H. Göring, Eric W. Johnson, Anne De Paepe, F. Michael Pope, Ivonne Pasquali-Ronchetti, Lionel Bercovitch, Sharon Terry, Charles D. Boyd

Institutions: University of Hawaiʻi at Mānoa, University of Hawaii System, University of Modena and Reggio Emilia, Texas Biomedical Research Institute, Barrow Neurological Institute, Ghent University Hospital, University Hospital of Wales, Brown University

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: bronze

Funders: National Institutes of Health, National Eye Institute, National Center for Research Resources

Awards: G311346361, Bioscience Research Infrastructure Development for Grant Enhancement and Success, G5659760395, COBRE: Center for Cardiovascular Research, ELASTIC FIBER DEFECTS IN PSEUDOXANTHOMA ELASTICUM, G832860652

OpenAlex ID: W2054214883

FWCI: 6.208

Cites: 66

Cited by: 201

Related to: 10