New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
Xie, Y., Lee, W., Cai, C., Gambin, T., Noupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., Gibbs, R., Greenstein, V. C., Lupski, J. R., Tsang, S. H., Allikmets, R.Volume:
23
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddu291
Date:
November, 2014
File:
PDF, 9.45 MB
english, 2014