Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C.
Stanton CM, et al. Among authors: cideciyan av.
Sci Rep. 2017 Sep 22;7(1):12147. doi: 10.1038/s41598-017-11898-3.
Sci Rep. 2017.
PMID: 28939808
Free PMC article.