Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort
Purpose. To delineate the clinical and genetic characteristics of Chinese patients with RPGRIP1-associated Leber congenital amaurosis 6 (LCA6). Methods. After screening 352 unrelated families with clinically diagnosed RP, five LCA6 patients with RPGRIP1 variations from unrelated Chinese families wer...
Saved in:
| Main Authors: | Yumei Mao, Yanling Long, Bo Liu, Qingling Cao, Yijian Li, Sha Li, Gang Wang, Xiaohong Meng, Shiying Li |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2021/9966427 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation
by: Sujit Das, et al.
Published: (2024-01-01) -
Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.
by: Qinxiang Zheng, et al.
Published: (2012-01-01) -
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
by: Katsuhiro Hosono, et al.
Published: (2015-01-01) -
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center
by: Abhishek Upadhyaya, et al.
Published: (2025-05-01) -
Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis
by: Srikrupa N. Natarajan, et al.
Published: (2025-02-01)