Work

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype

Year: 2018

Type: article

Source: Experimental Eye Research

DOI: 10.1016/j.exer.2018.04.010

Authors: Aiden Eblimit, Smriti Agrawal Zaneveld, Wei Liu, Kandace Thomas, Keqing Wang, Yumei Li, Graeme Mardon, Rui Chen

Institutions: Baylor College of Medicine, University of Houston

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: Baylor College of Medicine, Retina Research Foundation, National Eye Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Molecular Mechanisms of Human Retinal Disease, Baylor Intellectual and Developmental Disabilities Research Center, P30 - Core Grant for Vision Research, G6175911076, MOLECULAR GENETICS EMPHASIZING VISION RESEARCH, Molecular Basis of Human Visual System Disorders, Genetics of early onset retinal diseases

OpenAlex ID: W2802207025

FWCI: 1.067

Cites: 39

Cited by: 27

Related to: 10