Work

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Year: 1997

Type: article

Source: Nature Genetics

DOI: 10.1038/ng0497-377

Authors: Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout, Pedro Brites, Anneloor L.M.A. ten Asbroek, Frits A. Wijburg, Frank Baas, Hugo S. Heijmans, Henk F. Tabak, Ronald J.A. Wanders, Ben Distel

Institutions: Amsterdam UMC Location University of Amsterdam, University of Amsterdam

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1987049546

FWCI: 17.94

Cites: 33

Cited by: 271

Related to: 10