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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Detalles Bibliográficos
Autores principales: Lin, Ting-Yi, Chang, Yun-Chia, Hsiao, Yu-Jer, Chien, Yueh, Jheng, Ying-Chun, Wu, Jing-Rong, Ching, Lo-Jei, Hwang, De-Kuang, Hsu, Chih-Chien, Lin, Tai-Chi, Chou, Yu-Bai, Huang, Yi-Ming, Chen, Shih-Jen, Yang, Yi-Ping, Tsai, Ping-Hsing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198027/
https://www.ncbi.nlm.nih.gov/pubmed/34070492
http://dx.doi.org/10.3390/ijms22115594

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198027/
https://www.ncbi.nlm.nih.gov/pubmed/34070492
http://dx.doi.org/10.3390/ijms22115594

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