Work

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred

Year: 2022

Type: article

Study design: Observational Study

Source: Eye

DOI: 10.1038/s41433-022-02355-1

Authors: Yunxia Gao, Xiang Ren, Hong Lin, Kang Li, Lirong Xiao, Xiaoyue Wang, Zhibing Zeng, Ruijin Ran, Yunhan Tao, Yu Lin, Xiangyu Fu, Naihong Yan, Ming Zhang

Institutions: Sichuan University, West China Hospital of Sichuan University, State Key Laboratory of Biotherapy, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing Hospital, Minda Hospital, West China Medical Center of Sichuan 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: Sichuan University, Natural Science Foundation of Sichuan Province, West China Hospital, Sichuan University

Awards: G3444998646, G8387122753

OpenAlex ID: W4311822704

FWCI:

Cites: 26

Cited by:

Related to: 10