Work

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Year: 2022

Type: article

Study design: Case Report

Source: European Journal of Ophthalmology

DOI: 10.1177/11206721221136324

Authors: Tianchang Tao, Jia Liu, Bin Wang, Jijing Pang, Xiaoxin Li, Lvzhen Huang

Institutions: Peking University, Peking University People's Hospital, Xiamen University

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Natural Science Foundation of China

Awards: 自噬在年龄相关性黄斑变性发生发展中的作用机制研究, G970320902

OpenAlex ID: W4308060362

FWCI: 0.604

Cites: 38

Cited by: 4

Related to: 10