Work

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75?Cys mutation in the procollagen type II gene (COL2A1)

Year: 1993

Type: article

Source: Human Genetics

DOI: 10.1007/bf00216458

Authors: Charlene J. Williams, Eileen L. Considine, Robert G. Knowlton, Antonio Reginato, Guillermo Neumann, David Harrison, Paul Buxton, Sergio Jimenez, Darwin J. Prockop

Institutions: Thomas Jefferson University, Rutgers, The State University of New Jersey

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

Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G6733186129, Molecular Biology of Osteoarthritis

OpenAlex ID: W1994621405

FWCI: 2.707

Cites: 39

Cited by: 98

Related to: 10