Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

Qian, T., Gong, Q., Shen, H., Li, C., Wang, G., Xu, X., Schrauwen, I., & Wang, W. (2022). Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02301-5
Authors:
Tianwei Qian
Qiaoyun Gong
Hangqi Shen
Caihua Li
Gao Wang
Xun Xu
Isabelle Schrauwen
Weijun Wang
Affiliated Authors:
Tianwei Qian
Gao Wang
Isabelle Schrauwen
Columbia Affiliation:
Subjects:
Alcohol Oxidoreductases (MeSH)
Night Blindness (MeSH)
Retinal Dystrophies (MeSH)
Age-Related Macular Degeneration Research (OpenAlex Topic)
Detection and Management of Retinal Diseases (OpenAlex Topic)
Management of Vascular Malformations in the Brain (OpenAlex Topic)
Author Keywords:
fundus albipunctatus
rdh5 gene
frameshift deletion
missense variants
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Publication Type:
Article
Unique ID:
10.1186/s12886-022-02301-5
PMID:
35148716
DOI:
10.1186/s12886-022-02301-5
Journal:
BMC Ophthalmology
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: