Work

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy

Year: 1992

Type: article

Study design: Case Report

Source: Human Mutation

DOI: 10.1002/humu.1380010405

Authors: James K. Park, James J. O'Donnell, Vivian E. Shih, James F. Gusella, Vijaya Ramesh

Institutions: Harvard University, Massachusetts General Hospital, University of California, San Francisco

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

Funders: National Institutes of Health, National Human Genome Research Institute, National Eye Institute, National Institute of Neurological Disorders and Stroke

Awards: MOLECULAR DEFECT IN GYRATE ATROPHY OF CHOROID AND RETINA, G248026500, NEW AMINO ACID DISORDERS IN CEREBRAL DISEASE, G526269251, G714539263

OpenAlex ID: W1981044284

FWCI: 0.261

Cites: 24

Cited by: 4

Related to: 10