Work

The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3

Year: 2000

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s004390000258

Authors: G. Richard, N. Brown, L.E. Smith, A. Terrinoni, G. Melino, R.M. MacKie, S.J. Bale, J. Uitto

Institutions: Thomas Jefferson University, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, University of Rome Tor Vergata, Istituti di Ricovero e Cura a Carattere Scientifico, University of Glasgow

Language: English

Topic: Connexins and lens biology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Foundation for Ichthyosis and Related Skin Types, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Award: G8830917926

OpenAlex ID: W1971773092

FWCI: 3.011

Cites: 35

Cited by: 91

Related to: 10