Work

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Year: 1993

Type: article

Source: PubMed

Authors: N N Ahmad, D M McDonald-McGinn, E H Zackai, R G Knowlton, D LaRossa, J DiMascio, D J Prockop

Institution: Thomas Jefferson University

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: green

Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Award: Molecular Biology of Osteoarthritis

OpenAlex ID: W1567508528

FWCI: 6.441

Cites: 29

Cited by: 109

Related to: 10