Work

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Year: 1997

Type: article

Study design: Case Report

Source: Nature Genetics

DOI: 10.1038/ng1097-240

Authors: John A. McGrath, James R. McMillan, Carrie S. Shemanko, Sarah K. Runswick, Irene M. Leigh, E. Birgitte Lane, David R. Garrod, Robin A.J. Eady

Institutions: St Thomas' Hospital, University of Dundee, University of Manchester, St Bartholomew's Hospital, Queen Mary University of London

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: green

Funder: Wellcome Trust

OpenAlex ID: W2028851968

FWCI: 4.066

Cites:

Cited by: 379

Related to: 10