Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2020 Feb 25;117(8):3904-3906.
doi: 10.1073/pnas.1922925117. Epub 2020 Feb 7.

Understanding the genetic architecture of human retinal degenerations

Affiliations
Comment

Understanding the genetic architecture of human retinal degenerations

J Fielding Hejtmancik et al. Proc Natl Acad Sci U S A. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interest.

Comment on

References

    1. Berger W., Kloeckener-Gruissem B., Neidhardt J., The molecular basis of human retinal and vitreoretinal diseases. Prog. Retin. Eye Res. 29, 335–375 (2010). - PubMed
    1. Sharon D., Sandberg M. A., Caruso R. C., Berson E. L., Dryja T. P., Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch. Ophthalmol. 121, 1316–1323 (2003). - PubMed
    1. Kajiwara K., Berson E. L., Dryja T. P., Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264, 1604–1608 (1994). - PubMed
    1. Katsanis N., et al. , Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293, 2256–2259 (2001). - PubMed
    1. Hanany M., Rivolta C., Sharon D., Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc. Natl. Acad. Sci. U.S.A. 117, 2710–2716 (2020). - PMC - PubMed

LinkOut - more resources