Work

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

Year: 1989

Type: article

Study design: Observational Study

Source: Science

DOI: 10.1126/science.2543071

Authors: Brendan Lee, Henrik Vissing, Francesco Ramirez, David Rogers, David Rimoin

Institutions: State University of New York, SUNY Downstate Health Sciences University, Cedars-Sinai Medical Center, University of California, Los Angeles

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G199406178, G6857929973

OpenAlex ID: W2023394137

FWCI: 14.66

Cites: 17

Cited by: 244

Related to: 10