Work

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

Year: 1997

Type: article

Source: Nature Genetics

DOI: 10.1038/ng0497-381

Authors: P. Edward Purdue, Jing Wei Zhang, Marek Skoneczny, Paul B. Lazarow

Institution: Icahn School of Medicine at Mount Sinai

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

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Award: G3718164935

OpenAlex ID: W2073972553

FWCI: 17.75

Cites: 26

Cited by: 267

Related to: 10