Work

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

Year: 2013

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2013.21

Authors: Sung Pyo Park, In Hwan Hong, Stephen H Tsang, Stanley Chang

Institutions: Columbia University Irving Medical Center, Kangdong Sacred Heart Hospital, Hallym University Medical Center, Columbia University

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: green

Funders: Research to Prevent Blindness, Wellcome Trust, National Institutes of Health, National Eye Institute

Awards: G1451183653, G3157392040, Core Facilities for Vision Research, Therapeutic approaches for ABCA4-associated disorders, G3825983958, G4947859903, G9000180333, Defining Barriers to Gene Therapy

OpenAlex ID: W1510017797

FWCI: 1.195

Cites: 41

Cited by: 27

Related to: 10