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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Chang, Bo, Khanna, Hemant, Hawes, Norman, Jimeno, David, He, Shirley, Lillo, Concepcion, Parapuram, Sunil K., Cheng, Hong, Scott, Alison, Hurd, Ron E., Sayer, John A., Otto, Edgar A., Attanasio, Massimo, O'Toole, John F., Jin, Genglin, Shou, Chengchao, Hildebrandt, Friedhelm, Williams, David S., Heckenlively, John R., Swaroop, Anand·2006·Human Molecular Genetics
DOI 10.1093/hmg/ddl107
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Metadata

Authors
Chang, B., Khanna, H., Hawes, N., Jimeno, D., He, S., Lillo, C., Parapuram, S. K., Cheng, H., Scott, A., Hurd, R. E., Sayer, J. A., Otto, E. A., Attanasio, M., O'Toole, J. F., Jin, G., Shou, C., Hildebrandt, F., Williams, D. S., Heckenlively, J. R., & Swaroop, A.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2006-04-21
Volume
15
Issue
11
Pages
1847-1857
ISSN
  • 1460-2083
  • 0964-6906
DOI
10.1093/hmg/ddl107
Cited by
328
References
4
Language
en

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