Work

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

Year: 1993

Type: article

Source: Human Mutation

DOI: 10.1002/humu.1380020309

Authors: Joseph A. Rodriguez, Carlos A. Herrera, David G. Birch, Stephen P. Daiger

Institutions: The University of Texas Health Science Center at Houston, Retina Foundation of the Southwest

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Eye Institute

Awards: G3309723713, DNA Linkage Studies of Degenerative Retinal Diseases, G6559310971, Retinal Pathophysiology of Infants and Adults

OpenAlex ID: W2085813134

FWCI: 5.919

Cites: 25

Cited by: 60

Related to: 10