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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5774, doi. 10.1093/hmg/ddu291
By:
- Xie, Yajing (Angela);
- Lee, Winston;
- Cai, Carolyn;
- Gambin, Tomasz;
- Nõupuu, Kalev;
- Sujirakul, Tharikarn;
- Ayuso, Carmen;
- Jhangiani, Shalini;
- Muzny, Donna;
- Boerwinkle, Eric;
- Gibbs, Richard;
- Greenstein, Vivienne C.;
- Lupski, James R.;
- Tsang, Stephen H.;
- Allikmets, Rando
Publication type:
Article
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
Published in:
Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626
By:
- Zernant, Jana;
- Collison, Frederick T.;
- Lee, Winston;
- Fishman, Gerald A.;
- Noupuu, Kalev;
- Yuan, Bo;
- Cai, Carolyn;
- Lupski, James R.;
- Yannuzzi, Lawrence A.;
- Tsang, Stephen H.;
- Allikmets, Rando
Publication type:
Article