Work

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy

Year: 2024

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2024.2404148

Authors: Akshay Narayan, Laura J. Taylor, Sian Sperring, Morag Shanks, Penny Clouston, Robert E. MacLaren, Jasmina Cehajic-Kapetanovic

Institutions: Oxford University Hospitals NHS Trust, University of Oxford, Churchill Hospital

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

Funders: Fight for Sight, National Institute for Health and Care Research

Award: NIHR Senior Investigator Award

OpenAlex ID: W4402647032

FWCI: 0.347

Cites: 42

Cited by: 3

Related to: 10