Work

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis

Year: 1995

Type: article

Source: Human Molecular Genetics

DOI: 10.1093/hmg/4.2.309

Authors: Charlene J. Williams, Matthew Rock, Eileen Considine, Seamus McCarron, Peter Gow, Roger Ladda, David McLain, Virginia M. Michels, William Murphy, Darwin J. Prockop, Arupa Ganguly

Institutions: Thomas Jefferson University, Middlemore Hospital, Pennsylvania State University, Penn State Milton S. Hershey Medical Center, Mayo Clinic, The University of Texas MD Anderson Cancer Center

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 Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1773852948, BIOCHEMISTRY OF NORMAL AND DISEASED CONNECTIVE TISSUE, G6733186129, Molecular Biology of Osteoarthritis

OpenAlex ID: W1967868776

FWCI: 4.547

Cites:

Cited by: 69

Related to: 10