Work

Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis

Year: 2020

Type: article

Abstract: Leber congenital amaurosis (LCA) refers to a group of recessively inherited, severe rod-cone dystrophies of infantile onset, with symptoms presenting congenitally or within the first few months of ...

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2020.1737949

Authors: Ruben Jauregui, Ahra Cho, Christine L. Xu, Akemi J. Tanaka, Janet R. Sparrow, Stephen H. Tsang

Institutions: Cornell University, Columbia University Irving Medical Center, Weill Cornell Medicine, 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: National Institutes of Health, National Eye Institute

Awards: G180661243, G1951392988, G2648776141, Core Facilities for Vision Research, Therapeutic gene editing and multimodal imaging in juvenile macular degeneration , Translational Gene Therapy for CNGB1 Retinitis Pigmentosa, Defining Barriers to Gene Therapy, Gene Editing and Silencing in Phototransduction

OpenAlex ID: W3010954903

FWCI: 0.162

Cites: 12

Cited by: 4

Related to: 10