Work

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Year: 2008

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2008.12.001

Authors: Stuart W. Tompson, Barry Merriman, Vincent A. Funari, Maryline Fresquet, Ralph S. Lachman, David L. Rimoin, Stanley F. Nelson, Michael D. Briggs, Daniel H. Cohn, Deborah Krakow

Institutions: Cedars-Sinai Medical Center, University of California, Los Angeles, Wellcome Centre for Cell-Matrix Research, University of Manchester

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: bronze

Funders: Wellcome Trust, Cedars-Sinai Medical Center, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Defining disease mechanisms in mouse models of chondrodysplasia., G199406178, The Skeletal Dysplasias, Molecular genetics and cell-matrix pathology of monogenetics cartilage diseases.

OpenAlex ID: W2068121966

FWCI: 2.095

Cites: 13

Cited by: 146

Related to: 10