Work

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Year: 2010

Type: article

Study design: Case Report

Source: Journal of Investigative Dermatology

DOI: 10.1038/jid.2010.7

Authors: Rita M. Cabral, Lu Liu, Carol Hogan, Patricia J.C. Dopping-Hepenstal, Beatriz C. Winik, Raúl A. Asial, Richard Dobson, Charles A. Mein, Patricia A. Baselaga, Jemima E. Mellerio, Arti Nanda, Maria del Carmen Boente, David P. Kelsell, John A. McGrath, Andrew P. South

Institutions: University of London, Queen Mary University of London, St Thomas' Hospital, University of Dundee, Ninewells Hospital, National University of Tucumán, Consejo Nacional de Investigaciones Científicas y Técnicas, Instituto Superior de Investigaciones Biológicas, King's College London, King's College Hospital

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Dystrophic Epidermolysis Bullosa Research Association, Research Councils UK, European Commission, Medical Research Council

OpenAlex ID: W2061047208

FWCI: 2.239

Cites: 30

Cited by: 56

Related to: 10