Work

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2

Year: 2004

Type: article

Source: Journal of Investigative Dermatology

DOI: 10.1111/j.0022-202x.2004.23470.x

Authors: Gabriele Richard, Nkecha Brown, Akemi Ishida-Yamamoto, Alfons Krol

Institutions: Thomas Jefferson University, Asahikawa Medical University, Asahikawa University, Oregon Health & Science University

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: bronze

Funders: Dermatology Foundation, American Skin Association, Thomas Jefferson University, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1238136455, G1991966960, G2365588231, CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION, G4729662580, Program Project Grant

OpenAlex ID: W2028865867

FWCI: 2.017

Cites: 57

Cited by: 112

Related to: 10