Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing

Inherited retinal dystrophies (IRDs) are rare but highly heterogeneous genetic disorders that affect individuals and families worldwide. However, given its wide variability, its analysis of the driver genes for over 50% of the cases remains unexplored. The present study aims to identify novel driver...

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Bibliographic Details
Main Authors: Ting-Yi Lin, Yun-Chia Chang, Yu-Jer Hsiao, Yueh Chien, Ying-Chun Jheng, Jing-Rong Wu, Lo-Jei Ching, De-Kuang Hwang, Chih-Chien Hsu, Tai-Chi Lin, Yu-Bai Chou, Yi-Ming Huang, Shih-Jen Chen, Yi-Ping Yang, Ping-Hsing Tsai
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
inherited retinal dystrophies
whole-exome sequencing
retinitis pigmentosa
Online Access:https://www.mdpi.com/1422-0067/22/11/5594

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https://www.mdpi.com/1422-0067/22/11/5594

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