A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)
This study broaden the range of genetic mutations associated with <i>RP1</i> in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP. Future studies would pay more attention in determining the characterization of the mutantations in <i>RP1</i> gene and the relationship between genotype and phenotype in RP patients.
Authors
- Ying Zhang (ORCID: https://orcid.org/0000-0003-1116-8290)
- Xiangjun Chen (ORCID: https://orcid.org/0000-0003-0766-3416)
- Wei Wu (ORCID: https://orcid.org/0009-0007-6733-0986)
- Hua Jiang (ORCID: https://orcid.org/0000-0002-7561-3085)
- Jingjie Xu (ORCID: https://orcid.org/0000-0002-9349-1392)
Institutions
- Second Affiliated Hospital of Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Advances in Ophthalmology Practice and Research
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1016/j.aopr.2024.08.005
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Science and Technology Department of Zhejiang Province
- Natural Science Foundation of Zhejiang Province