New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R.
Xie YA, et al. Among authors: lee w.
Hum Mol Genet. 2014 Nov 1;23(21):5774-80. doi: 10.1093/hmg/ddu291. Epub 2014 Jun 10.
Hum Mol Genet. 2014.
PMID: 24916380
Free PMC article.