An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa
- PMID: 29472945
- PMCID: PMC5809491
- DOI: 10.3389/fgene.2018.00009
An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa
Keywords: CRISPR/Cas9; genetics; hearing loss; phosphodiesterase; retinitis pigmentosa; usher syndrome.
References
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- Bayés M., Giordano M., Balcells S., Grinberg D., Vilageliu L., Martínez I., et al. (1995). Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum. Mutat. 5, 228–234. 10.1002/humu.1380050307 - DOI - PubMed
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